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American Journal of Medical Genetics. Part A|May 25, 2026
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature ReviewEmily M Bland, Amber Nakar Weinstein, Eric C Kao, et al.American Journal of Medical Genetics. Part A|August 31, 2024
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual DisabilityEric C Kao, Elizabeth A Mizerik, Carlos A Bacino, et al.Biology of Reproduction|December 27, 2025
Loss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†Momal Sharif, Zahra Anvar, Imen Chakchouk, et al.Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.American Journal of Human Genetics|June 8, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorderSock Hoai Chan, Audra N Iness, Jill A Rosenfeld, et al.Pageof 1