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American Journal of Medical Genetics. Part A|July 17, 2015
Pseudoachondroplasia and painful sequelaeCandace Gamble, Joanne Nguyen, S Shahrukh Hashmi, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|August 4, 2016
Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblingsRachel Courtney, Candace Gamble, Monica L Arango, et al.American Journal of Medical Genetics. Part A|October 3, 2018
Multicenter study of mortality in achondroplasiaS Shahrukh Hashmi, Candace Gamble, Julie Hoover-Fong, et al.American Journal of Human Genetics|March 21, 2020
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental DisorderFrancesca Mattioli, Gaelle Hayot, Nathalie Drouot, et al.Molecular Psychiatry|June 30, 2021
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neuronsKaren Runge, Rémi Mathieu, Stéphane Bugeon, et al.Genetics in Medicine Open|June 5, 2025
Autosomal dominant <i>HK1</i>-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorderBobby G Ng, Erik A Eklund, Jill A Rosenfeld, et al.American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.Pageof 1