| 2025 |
Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies |
Articolo in rivista |
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| 2025 |
Knowledge and management of Münchausen’s Syndrome by proxy: a survey conducted through the compilation of a questionnaire by pediatricians belonging to the Italian Society of Pediatrics |
Articolo in rivista |
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| 2025 |
Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease |
Articolo in rivista |
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| 2025 |
KBG syndrome: report and follow-up on three unrelated patients observed at different ages |
Articolo in rivista |
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| 2025 |
Congenital cytomegalovirus infection and brain injury in a newborn following maternal non-primary infection: case report of an unexpected diagnosis |
Articolo in rivista |
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| 2024 |
Advances in pediatrics in 2023: choices in allergy, analgesia, cardiology, endocrinology, gastroenterology, genetics, global health, hematology, infectious diseases, neonatology, neurology, pulmonology |
Review essay (rassegna critica) |
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| 2024 |
Increase of multidrug-resistant bacteria after the COVID-19 pandemic in a major teaching Hospital in Sicily (2018-2021) |
Articolo in rivista |
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| 2024 |
Antioxidant Therapy in Neonatal Hypoxic Ischemic Encephalopathy: Adjuvant or Future Alternative to Therapeutic Hypothermia? |
Review essay (rassegna critica) |
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| 2024 |
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome |
Articolo in rivista |
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| 2023 |
Report and follow-up on two new patients with congenital mesoblastic nephroma |
Articolo in rivista |
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| 2023 |
La Bioetica sul campo: una sfida per il neonatologo e il pediatra |
Articolo in rivista |
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| 2023 |
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception |
Articolo in rivista |
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| 2023 |
Follow-Up to Ensure Continuity of Care and Support Preventive Care |
Capitolo o Saggio |
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| 2023 |
Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology |
Review essay (rassegna critica) |
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| 2022 |
Clinical and genetic approach in the characterization of newborns with anorectal malformation |
Articolo in rivista |
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| 2022 |
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report |
Articolo in rivista |
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| 2022 |
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles |
Articolo in rivista |
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| 2022 |
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
Articolo in rivista |
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| 2022 |
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene |
Articolo in rivista |
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| 2022 |
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2K2 gene |
Articolo in rivista |
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| 2022 |
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene |
Articolo in rivista |
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| 2022 |
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene |
Articolo in rivista |
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| 2022 |
New insights in pediatrics in 2021: choices in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, neurology, nutrition, palliative care, respiratory tract illnesses and telemedicine |
Review essay (rassegna critica) |
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| 2022 |
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction |
Articolo in rivista |
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| 2022 |
A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations |
Nota o commento |
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| 2022 |
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder |
Articolo in rivista |
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| 2021 |
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up |
Articolo in rivista |
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| 2021 |
Case Report: Unusual Clinical Presentation of a Rare Cardiac Inflammatory Myofibroblastic Tumor in Children: The Differential Diagnosis With Pediatric Emergencies |
Articolo in rivista |
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| 2021 |
From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project |
Articolo in rivista |
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| 2021 |
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates |
Review essay (rassegna critica) |
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| 2021 |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
Articolo in rivista |
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| 2021 |
The social role of pediatrics in the past and present times |
Lettera |
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| 2021 |
Developments in pediatrics in 2020: choices in allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, ortopedics, respiratory tract illnesses and rheumatology |
Articolo in rivista |
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| 2020 |
Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation |
Articolo in rivista |
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| 2020 |
Lacune neonatali: l’aplasia cutis congenita |
Articolo in rivista |
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| 2020 |
MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS |
Articolo in rivista |
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| 2020 |
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON
DEFINITIONS AND DETERMINANTS |
Articolo in rivista |
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| 2020 |
Migraine in Children Under 7 Years of Age: a Review |
Articolo in rivista |
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| 2020 |
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? |
Articolo in rivista |
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| 2020 |
Oxidative stress in preterm infants: Overview of current evidence and future prospects |
Review essay (rassegna critica) |
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| 2020 |
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report |
Articolo in rivista |
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| 2020 |
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome |
Articolo in rivista |
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| 2020 |
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient |
Articolo in rivista |
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| 2020 |
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation |
Articolo in rivista |
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| 2020 |
Recognizable neonatal clinical features of aplasia cutis congenita |
Articolo in rivista |
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| 2020 |
Delayed neonatal visual evoked potentials are associated to asymmetric growth pattern in twins |
Articolo in rivista |
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| 2020 |
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion |
Articolo in rivista |
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| 2020 |
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital |
Articolo in rivista |
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| 2020 |
Growth patterns and associated risk factors of congenital malformations in twins |
Articolo in rivista |
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| 2020 |
The child with overgrowth between clinical variability and genetic heterogeneity |
Articolo in rivista |
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| 2019 |
Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences |
Review essay (rassegna critica) |
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| 2019 |
General Movements (GMs): assessment and predictive value |
Abstract in atti di convegno pubblicato in rivista |
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| 2019 |
A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome |
Articolo in rivista |
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| 2019 |
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects |
Articolo in rivista |
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| 2019 |
Methemoglobinemia Associated with Late-Onset Neonatal Sepsis: A Single-Center Experience |
Articolo in rivista |
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| 2019 |
The impact of genetic diseases on neonatal and pediatric care |
Articolo in rivista |
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| 2019 |
NF1 microdeletion syndrome: Case report of two new patients |
Articolo in rivista |
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| 2018 |
Transitional hemodynamics in infants of diabetic mothers by targeted neonatal echocardiography, electrocardiography and peripheral flow study |
Articolo in rivista |
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| 2018 |
Etiological heterogeneity and clinical variability in newborns with esophageal atresia |
Articolo in rivista |
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| 2018 |
A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol |
Articolo in rivista |
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| 2018 |
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report |
Articolo in rivista |
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| 2018 |
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 |
Articolo in rivista |
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| 2018 |
Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses |
Articolo in rivista |
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| 2018 |
WIDENING THE SCOPE OF NEXT GENERATION SEQUENCING APPLICATIONS IN PEDIATRIC MEDICAL GENETICS |
Articolo in rivista |
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| 2017 |
Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery |
Articolo in rivista |
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| 2017 |
IPOGLICEMIA NEONATALE: RILIEVI EPIDEMIOLOGICI IN UN CAMPIONE DI NEONATI RICOVERATI (2012-2017) |
Poster non pubblicato |
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| 2017 |
POTENZIALI EVOCATI VISIVI DA FLASH IN GEMELLI IN EPOCA NEONATALE. CORRELAZIONI CON LA ADEGUATEZZA DEL PESO CON LA ETA' GESTAZIONALE (AGA VS SGA) |
Proceedings |
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| 2017 |
INTERNET OUT OF CONTROL: THE ROLE OF SELF-ESTEEM AND PERSONALITY TRAITS IN PATHOLOGICAL INTERNET USE |
Articolo in rivista |
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| 2016 |
SINDROME DI PALLISTER KILLIAN. DESCRIZIONE DI UN CASO E CORRELAZIONE CLINICO GENETICA |
Proceedings |
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| 2016 |
Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study |
Articolo in rivista |
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| 2016 |
DISFUNZIONE MULTIORGANO (MOF) IN CORSO DI ENCEFALOPATIA NEONATALE. INDAGINE EPIDEMIOLOGICA SU UN CAMPIONE DI NEONATI OSSERVATI NEL PERIODO GENNAIO 2009 - MAGGIO 2016 |
Abstract non pubblicato |
Go to |
| 2016 |
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION |
Poster pubblicato in rivista |
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| 2016 |
Sindrome da duplicazione 1q21: variabile penetranza ed espressività clinica intrafamiliare di un riarrangimento genomico di circa 6 Mb non precedentemente descritto |
Proceedings |
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| 2016 |
Spontaneous Resorption of an Occipital Meningocele: Computed Tomography and Magnetic Resonance Imaging Evaluation |
Articolo in rivista |
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| 2015 |
Management of multiple pregnancy with an affected twin |
Articolo in rivista |
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| 2015 |
WIDENING THE SCOPE OF THE 15q13.3 MICRODUPLICATION SYNDROME. PATIENT REPORT AND GENOTYPE-PHENOTYPE CORRELATION. |
Proceedings |
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| 2015 |
Diagnosi precoce di disabilità intellettiva sindromica |
Proceedings |
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| 2015 |
Disabilità Intellettiva, riarrangiamenti genomici, ittioli |
Proceedings |
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| 2015 |
Germinal matrix hemorrhage-intraventricular
hemorrhage: pathogenesis and outcomes |
Proceedings |
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| 2015 |
Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism |
Abstract in atti di convegno pubblicato in rivista |
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| 2015 |
DYKE DAVIDOFF MASSON SYNDROME:PROFILO DI SVILUPPO NEURO-COGNITIVO A 4 ANNI IN UN PAZIENTE CON DIAGNOSI IN EPOCA NEONATALE |
Proceedings |
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| 2015 |
OUTCOME DI SVILUPPO A BREVE TERMINE IN SOGGETTI SOTTOPOSTI A TRATTAMENTO IPOTERMICO |
Contributo in atti di convegno pubblicato in volume |
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| 2015 |
ASFISSIA PERINATALE:VALUTAZIONE CLINICO-EPIDEMIOLOGICA IN UN CAMPIONE DI NEONATI DI ≥ 34 SEG |
Abstract in atti di convegno pubblicato in volume |
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| 2015 |
Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation |
Articolo in rivista |
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| 2015 |
Sorveglianza dello sviluppo in soggetti con anomalie del setto pellucido. descrizione di un caso con agenzia isolata. |
Proceedings |
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| 2015 |
FOLLOW-UP DI SVILUPPO NEUROPSICOMOTORIO E CORRELAZIONI CON IL PONDERAL INDEX IN UN CAMPIONE DI NEONATI LATE PRETERM |
Proceedings |
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| 2014 |
Epilessia temporale e manifestazioni parossistiche neurovegetative in età prescolare: descrizione di un caso clinico emblematico |
Proceedings |
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| 2014 |
Grave ipotonia neonatale con artrogriposi: descrizione di un caso clinico e problematiche diagnostiche |
Proceedings |
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| 2014 |
Unusual paroxysmal autonomic manifestations in a 22 month old girl |
Proceedings |
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| 2014 |
Predictive Factors of Abdominal Compartment Syndrome in Neonatal Age |
Articolo in rivista |
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| 2014 |
Gestione pre eperinatale della malformazione adenoido-cistica polmonare congenita |
Proceedings |
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| 2014 |
New application of heart rate variability in newborns at developmental risk |
Proceedings |
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| 2014 |
Effetti a breve termine del Diabate Mellito Materno sulla maturazione ossea |
Proceedings |
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| 2014 |
Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study |
Articolo in rivista |
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| 2013 |
COPY NUMBER VARIATIONS IN THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS |
Articolo in rivista |
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| 2013 |
TYPE AND COUNTER-TYPE FROM SPECIFIC CHROMOSOMAL REGIONS |
Articolo in rivista |
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| 2013 |
Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future |
Articolo in rivista |
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| 2013 |
An acute headache due a nodulary swell- ing of the skull |
Abstract in rivista |
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| 2013 |
DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION
(MRA/MR) |
Articolo in rivista |
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| 2013 |
Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study |
Articolo in rivista |
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| 2013 |
COPY NUMBER VARIATIONS IN THE ETIOLOGY OF EPILEPSY |
Articolo in rivista |
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| 2013 |
CONGENITAL DIAPHRAGMATIC HERNIA AND ESOPHAGEAL ATRESIA: THE IMPORTANCE OF RESPIRATORY FOLLOW-UP IN CONGENITAL THORACIC MALFORMATION |
Articolo in rivista |
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| 2013 |
Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery |
Articolo in rivista |
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| 2013 |
16P11.2 MICRODELETION/MICRODUPLICATION SYNDROME: FURTHER CHARACTERIZATION
OF A CRITICAL REGION FOR NEUROPSYCHIATRIC DEVELOPMENT |
Articolo in rivista |
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| 2013 |
MICROCEPHALY A CLINICAL-GENETIC AND NEUROLOGIC APPROACH |
Articolo in rivista |
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| 2013 |
MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES |
Articolo in rivista |
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| 2013 |
Gemellarità e prematurità |
Capitolo o Saggio |
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| 2012 |
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. |
Articolo in rivista |
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| 2012 |
Prematurity and twinning |
Articolo in rivista |
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| 2012 |
Assessment of Cardiac funcionality in term newborns born to diabetic mothers |
Proceedings |
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| 2012 |
ENCEFALOPATIA NEONATALE. IL RUOLO DELLA INFEZIONE. ANALISI DI UN CAMPIONE DI 1107 NEONATI RICOVERATI IN UTIN E TERAPIA SEMINTENSIVA |
Proceedings |
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| 2012 |
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism |
Proceedings |
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| 2012 |
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH |
Articolo in rivista |
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| 2011 |
SINDROME DA MICRODELEZIONE 17q21.31: DESCRIZIONE DI UN CASO CON ELEVATA ESPRESSIVITA' CLINICA |
Proceedings |
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| 2011 |
High Resolution CT Angiography
in Detection of an Aneurysm
of the Vein of Galen as a Source
of Intracranial Haemorrhage
in a Newborn |
Articolo in rivista |
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| 2010 |
Aspetti neuroevolutivi |
Capitolo o Saggio |
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| 2010 |
The world of twins: an update |
Articolo in rivista |
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| 2009 |
Oloprosencefalia semilobare: aspetti elettroencefalografici |
Proceedings |
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| 2009 |
FOLLOW-UP 2003-2008 DEI NATI VERY LOW BIRTH WEIGHT: ESITI NEUROLOGICI |
Proceedings |
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| 2009 |
UNA NUOVA MUTAZIONE DEL GENE CREBBP IN UN BAMBINO CON SINDROME DI RUBINSTEIN TAYBI |
Proceedings |
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| 2009 |
IL NEONATO IPOTONICO: DIAGNOSTICA DI LABORATORIO |
Proceedings |
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| 2009 |
IL NEONATO VARIAMENTE GROSSO |
Articolo in rivista |
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| 2009 |
SINDROME DI APERT, SVILUPPO NEUROPSICOMOTORIO E FUNZIONE VISIVA: FATTORI DI RISCHIO PROGNOSTICO IN TRE PAZIENTI |
Proceedings |
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| 2009 |
Autostima,sensation seeking e impulsività nell'uso problematico delle
nuove tecnologie in adolescenza |
Abstract in rivista |
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| 2009 |
A premature infant with Costello syndrome due to a rare G13C HRAS mutation |
Articolo in rivista |
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| 2009 |
POTENZIALI EVOCATI VISIVI (PEV) IN NEONATI DA GRAVIDANZA PLURIMA: RELAZIONE CON LA DISCORDANZA IN PESO (AGA VS SGA) |
Proceedings |
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| 2008 |
I gemelli: eterogeneità clinica e approccio multidisciplinare [Twins: Clinical heterogeneity and multidisciplinary approach] |
Articolo in rivista |
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| 2008 |
The Bayley II test for assessing newborns at risk. Study based on samples of premature children without brain disorders and not premature children with brain damage:posssible correlations with the ADHD syndrome |
Proceedings |
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| 2008 |
LO SCREENING DI SVILUPPO |
Capitolo o Saggio |
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| 2008 |
Sciwora con mioclono spinale.Descrizione di un caso in età adolescenziale |
Proceedings |
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| 2008 |
Neonato con spettro facio-auricolo-vertebrale a piena espressività clinica e grave compromissione funzionale. |
Proceedings |
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| 2008 |
10qter deletion: A new case |
Articolo in rivista |
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| 2008 |
Potenziali Evocati Visivi precoci in tre soggetti con sindrome di Apert |
Proceedings |
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| 2008 |
PESCHIAMO NELLA RETE: ORPHANET |
Articolo in rivista |
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| 2008 |
Mild twin–twin transfusion syndrome: Clinical report. |
Articolo in rivista |
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| 2008 |
Sindrome di Smith Magenis da delezione 17
q 11.2: descrizione di un caso ad elevata espressività clinica |
Proceedings |
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| 2007 |
Oriental facial features, growth impairment, mental retardation, hypotonia, severe scoliosis, and precocious thelarche in females. |
Articolo in rivista |
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| 2007 |
Disturbo di regolazione in un campione a rischio: risultati di una intervista di screening ai genitori |
Proceedings |
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| 2007 |
UP DATE IN NEUROLOGIA NEONATALE
LA DIAGNOSTICA |
Proceedings |
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| 2007 |
Sindrome di Pfeiffer:identificazione di una nuova mutazione nel gene FGFR2 |
Proceedings |
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| 2007 |
Sindrome di Pfeiffer: identificazione di una nuova mutazione nel gene FGFR2. |
Articolo in rivista |
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| 2007 |
Screening ecografico cerebrale nel neonato sano:descrizione di 3 casi di cisti aracnoidea |
Proceedings |
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| 2007 |
PEV da flash a luce bianca,gialla,rossa, blu e verde in neonati a termine e pretermine. Utilità per un migliore studio della maturazione cerebrale |
Proceedings |
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| 2007 |
Neonatal presentation of Prader Willi sindrome. Personal records. |
Articolo in rivista |
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| 2007 |
Disturbo di regolazione in un campione a rischio: risultati di una intervista di screening ai genitori. |
Articolo in rivista |
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| 2007 |
Displasia setto-ottica: descrizione di un caso con progressivo deterioramento dei PEV |
Proceedings |
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| 2007 |
Sindrome di Down da duplicazione della regione critica 21q22.2-q22.3 |
Proceedings |
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| 2007 |
ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) |
Articolo in rivista |
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| 2006 |
Riarrangiamento cromosomico subtelomerico Del 10Q25: descrizione di un caso con elevata espressività clinica. |
Proceedings |
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| 2006 |
Displasia setto-ottica,; descrizione di un caso ad esordio precoce. |
Proceedings |
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| 2006 |
KANGAROO MOTHER CARE UNA GUIDA PRATICA |
Articolo in rivista |
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| 2006 |
IX SINDROME DI RETT DA AMPIA DELEZIONE DEL GENE MeCP2. |
Proceedings |
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| 2006 |
Sindrome di Rett da ampia delezione del gene MeCP2 |
Proceedings |
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| 2006 |
IRSUTISMO SEVERO IN SINDROME DI KABUKI: DESCRIZIONE DI UN CASO |
Proceedings |
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| 2006 |
SINDROME DA ASTINENZA NEONATALE |
Proceedings |
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| 2006 |
Artrogriposi multipla congenita da lesione del II motoneurone, descrizione di un caso e considerazioni clinico-diagnostiche. |
Proceedings |
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| 2006 |
Neuropediatria e Pediatria dello Sviluppo e del Comportamento. |
Articolo in rivista |
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| 2006 |
I disturbi del linguaggio. |
Articolo in rivista |
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| 2005 |
Diabete insipido centrale da idrocefalo congenito in un neonato di genitori immigrati |
Proceedings |
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| 2005 |
Le problematiche IUGR nei gemelli |
Articolo in rivista |
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| 2005 |
Microvillous Inclusion Disease in a newborn with positive family history of intractable diarrhoea |
Articolo in rivista |
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| 2005 |
Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report |
Articolo in rivista |
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| 2005 |
Arteria ombelicale unica (AOU): un marker di anomalie congenite |
Proceedings |
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| 2005 |
Six patients with Pro250Arg mutation in FGFR3 in a family with coronal craniosynostosis: intrafamilial variability and clinical management |
Articolo in rivista |
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| 2005 |
Macrocefalia: analisi dei fattori predittivi di compromissione dello sviluppo neuropsicomotorio in un campione selezionato di 22 casi. |
Proceedings |
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| 2005 |
Patologia cromosomica rara:47,XXX / 48 XXXX. |
Proceedings |
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| 2005 |
Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay |
Articolo in rivista |
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| 2005 |
Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving the chromosomes X and 21. First report in a male newborn patient |
Articolo in rivista |
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| 2005 |
Sindrome di Aicardi: correlati elettroclinici e follow-up in un caso con associate multiple anomalie cerebrali. |
Proceedings |
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| 2005 |
Perlman sindrome: Clinical report and nine-year follow-up |
Articolo in rivista |
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| 2005 |
DIABETE INSIPIDO E PANIPOPITUITARISMO IN IDROCEFALO CONGENITO: DESCRIZIONE DI UN CASO |
Proceedings |
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| 2004 |
NEUROFIBROMATOSI TIPO 1 E TUMORI INFANTILI OSSERVAZIONI SU 9 CASI |
Articolo in rivista |
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| 2004 |
EDEME GENERALIZZATO, IPOTONIA E IPERECCITABILITA' ALLA NASCITA IN NEONATO A TERMINE CON GALATTOSIALIDOSI:APPROCCIO CLINICO E DIAGNOSTICO |
Proceedings |
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| 2004 |
Marker cromosomico soprannumerario: iso 18p |
Proceedings |
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| 2004 |
LONG GAP ESOPHAGEAL ATRESIA AND ASSOCIATED ANOMALIES ATRESIA ESOFAGEA “LONG GAP” ED ANOMALIE ASSOCIATE |
Articolo in rivista |
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| 2004 |
Sindrome del 13q intervento comportamentale e relazionale |
Proceedings |
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| 2004 |
Epilessia in età evolutiva:i farmaci d'elezione |
Articolo in rivista |
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| 2004 |
La neurofibromatosi 1 in età evolutiva: contributo casistico e revisione clinica |
Proceedings |
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| 2004 |
Rara aneuploidia cromosomica, trisomia parziale 14 (q24.3_ter) de novo |
Proceedings |
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| 2004 |
Infarto cerebrale in nato a termine:esiti a 12 mesi |
Proceedings |
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| 2004 |
L’epilessia in età evolutiva : i farmaci d’elezione |
Monografia |
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| 2004 |
Il neonato ipossico |
Proceedings |
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| 2004 |
Diastematomelia:descrizione di un caso con quadro clinico peculiare |
Proceedings |
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| 2004 |
Sindrome 13 q: intervento comportamentale e relazionale |
Proceedings |
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| 2004 |
Osservazioni cliniche su due coppie di gemelli monozigotici discordanti per la presenza di anencefalia |
Proceedings |
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