Search

Your search keyword '"Goodship, Judith"' showing total 34 results

Search Constraints

Start Over You searched for: Author "Goodship, Judith" Remove constraint Author: "Goodship, Judith" Database ScienceDirect Remove constraint Database: ScienceDirect
34 results on '"Goodship, Judith"'

Search Results

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

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

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

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

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

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

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

15. A perspective on inversin

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

Catalog

Books, media, physical & digital resources