Showing results (1-10 of 6) with videos related to
Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|January 16, 2024
Data from electronic healthcare records expand our understanding of X-linked genetic diseasesRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.International Journal of Dermatology|January 7, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN AuthorsAthira Sivadas, Katelyn Moore, Kimberly Ezell, et al.American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 1