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1. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

2. Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

4. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

5. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

7. Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

8. Molecular genetics of X-linked immunodeficiency disorders

10. Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

12. Prevalence and architecture of de novo mutations in developmental disorders

13. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

22. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

24. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

26. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (Report)

29. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

31. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

32. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

33. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

39. De Novo Gene Conversion in the RCA Gene Cluster (1q32) Causes Mutations in Complement Factor H Associated With Atypical Hemolytic Uremic Syndrome

41. Lack of major involvement of human uroplakin genes in vesicoureteral reflux: Implications for disease heterogeneity

42. A perspective on inversin

46. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

49. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

50. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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