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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. Effects of eight neuropsychiatric copy number variants on human brain structure

6. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

8. MG132 induces progerin clearance and improves disease phenotypes in fibroblasts of patients affected with Hutchinson-Gilford Progeria-like syndromes

9. Prevalence and management of gastrointestinal manifestations in Silver–Russell syndrome

18. L’étude d’une cohorte de patientes avec diminution de réserve ovarienne révèle des causes génétiques communes avec l’insuffisance ovarienne primitive

20. FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

21. P1247FLNC pathogenic variants in patients with various cardiomyopathies:prevalence and genotype-phenotype correlations

23. The spectrum of mutations in TBX3: genotype/phenotype relationship in ulnar-mammary syndrome

25. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

35. Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

39. FLNC mutations in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

44. IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

46. Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I

47. Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder

48. Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

49. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

50. CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families.

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