289 results on '"Garavelli L"'
Search Results
2. Congenital Heart Defects: 15 Years of Experience of the Emilia-Romagna Registry (Italy)
3. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
4. Reconstruction of larval origins based on genetic relatedness and biophysical modeling
5. Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies
6. Correspondence on 'Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG'
7. Expanding the clinical spectrum of the ‘HDAC8-phenotype’ – implications for molecular diagnostics, counseling and risk prediction
8. Mowat-Wilson syndrome:growth charts
9. Modeling the dispersal of Cape hake ichthyoplankton
10. Mandibuloacral Dysplasia Type A in Childhood
11. Mowat–Wilson Syndrome: Facial Phenotype Changing With Age: Study of 19 Italian Patients and Review of the Literature
12. Holt–Oram syndrome associated with anomalies of the feet
13. Clinical Genetics Educational external assessment (EQA)-assuring improvement in the Clinical Service
14. The homozygous deletion of the 3′ enhancer of the SHOX gene causes Langer mesomelic dysplasia
15. DERMATOLOGIC FEATURES IN PALLISTER–KILLIAN SYNDROME AND THEIR IMPORTANCE TO THE DIAGNOSIS
16. Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy)
17. Blue crab larval dispersal highlights population connectivity and implications for fishery management
18. External Quality Assessment of Clinical Genetics: experiences with the pilot assessments
19. A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus
20. Sleep in Mowat-Wilson syndrome (MWS): Clinical and polysomnografic study
21. Optimizing the molecular diagnosis of GALNS: Novel methods to define and characterize morquio-A syndrome-associated mutations
22. Syndromic intellectual disability: A new phenotype caused by an 2 aromatic amino acid decarboxylase gene (DDC) variant
23. SHOX region mutation in Leri-Weill dischondrosteosis (LWS)
24. Phenotype and genotype in Nicolaides-Baraitser syndrome
25. A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea
26. Il gene Nemo tra le cause di disturbi dell'apprendimento
27. Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients
28. (Waardenburg Anophthalmia) Syndrome in Humans and Mice
29. Ten-years longitudinal study of thyroid function in children with Down syndrome
30. Modelling the dispersal of Cape hake ichthyoplankton
31. Residence near power lines and risk of birth defects
32. SHOX region mutation in Leri-Weil dischondrosteosis (LWS)
33. Residenza in prossimità delle linee elettriche ad alta tensione e rischio di malformazioni congenite: uno studio caso-controllo
34. Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss
35. Prevalence of birth defects in a population living nearby a municipal solid waste incinerator with intermittent operativity
36. Esposizione alle emissioni di un inceneritore per rifiuti solidi urbani e rischio di malformazioni congenite
37. Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene
38. Clinical Features and molecular aspects of 15 italian patients with Mowat-Wilson syndrome
39. The italian XLMR bank: a clinical and molecular database
40. Identification of rare alleles in an Italian population of 284 patients with 21- hydroxylase deficiency by complete sequencing of the CYP21 gene
41. Sindrome di Holt-Oram: descrizione di 6 casi in 2 nuove famiglie
42. An ancient disease that can be prevented is returning: nutritional rickets
43. 22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review
44. Massive Hemobilia and Papillomatosis of the Gallbladder in Metachromatic Leukodystrophy: A Life-Threatening Condition
45. Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case
46. Dermatologic Features in Pallister?Killian Syndrome and their Importance to the Diagnosis
47. Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B)
48. Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat‐Wilson syndrome
49. Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?
50. Neurofibromatosis Type 1 and Precocious Puberty
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