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64 results on '"Hurles, Matthew"'

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1. Using Organoids to Model Sex Differences in the Human Brain

4. A cross-disorder dosage sensitivity map of the human genome

5. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

6. Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

8. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

10. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

12. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

13. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

14. Clinical and molecular consequences of disease-associated de novo mutations in SATB2

15. An Organismal CNV Mutator Phenotype Restricted to Early Human Development

16. A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

18. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

20. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

21. Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

23. TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

24. Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

25. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

27. Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

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

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

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

40. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

41. Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

42. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

43. eP348 - Launch of the gene curation coalition database

44. Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

45. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

46. Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism

49. Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

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