about
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentA novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.Three-dimensional genome architecture in health and disease.Mechanisms of Mendelian dominance.On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatmentFurther quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytesInsights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray dataCauses and effects of haploinsufficiencyHigh-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa CellsDHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation
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Q29147494-3598A2E8-2BA1-4660-84F0-34AE9D719D75Q39338484-FA8ECD8B-DEC6-4EEE-8087-23EC6460C812Q47303227-74E05A10-9EB2-4B48-8A4E-89EC196ECF2BQ48152384-739E17C5-4F5E-4FB9-9FD8-228C07E11BC8Q48326258-51D40F65-A122-41D2-8AE2-91763671C6D3Q90879333-072ADD26-C238-444B-B219-8F67EA2DB542Q91253093-DE86CD65-E6D1-4005-8C28-F15D174D0088Q92328828-3A152B6F-052A-49A6-ABD3-AEE78FD19B7CQ92436040-CFA50FDB-9A48-4CC7-B723-BB7FCEFEBBFDQ93137325-D497CBFF-CFD2-4202-86C1-BE6640CE6935Q96172256-EB91B6B8-91E7-42FB-BBEF-4F90FA2441FF
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description
investigador
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researcher
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wetenschapper
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name
R A Veitia
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R A Veitia
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R A Veitia
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R A Veitia
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R A Veitia
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R A Veitia
@nl
P31
P496
0000-0002-4100-2681