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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 19, 2025
Targeted Therapies in Neurofibromatosis Type 1Aimee A Sato, Dawn Earl, Stephanie E Wallace
The Journal of Pediatrics|February 4, 2005
Deformational brachycephaly in supine-sleeping infantsJohn M Graham, Jeannie Kreutzman, Dawn Earl, et al.
Human Genetics|January 3, 2021
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulationFabiola Quintero-Rivera, Celeste C Eno, Christine Sutanto, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
American Journal of Medical Genetics. Part A|May 14, 2022
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndromeAnita Kaw, Kaveeta Kaw, Ellen M Hostetler, et al.
American Journal of Medical Genetics. Part A|October 13, 2006
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformationNathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, et al.
HGG Advances|December 30, 2022
Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
HGG Advances|April 26, 2022
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
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