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Ophthalmic Genetics|April 21, 2016
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generationsAndrew Kemerley, Christina Sloan, Wanda Pfeifer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2021
Trainee perspectives of COVID-19 impact on medical genetics educationAmanda Barone Pritchard, Christina Sloan-Heggen, Catherine E Keegan, et al.The British Journal of Dermatology|February 19, 2025
Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosisZijuan Wang, Jun Liu, Oded Wechsberg, et al.Proceedings of the National Academy of Sciences of the United States of America|November 26, 2009
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsinJoseph Carroll, Rigmor C Baraas, Melissa Wagner-Schuman, et al.Archives of Iranian Medicine|October 16, 2016
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive ReviewMaryam Beheshtian, Mojgan Babanejad, Hela Azaiez, et al.Pageof 1