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Nature Genetics|October 2, 2012
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysmAlexander J Doyle, Jefferson J Doyle, Seneca L Bessling, et al.American Journal of Medical Genetics. Part A|June 18, 2022
Exome sequencing identifies genetic variants in anophthalmia and microphthalmiaJingjing Li, Wei Yang, Yuejun Jessie Wang, et al.Brain : a Journal of Neurology|April 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyriaAnnalisa Vetro, Hang N Nielsen, Rikke Holm, et al.Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.Nature Communications|November 11, 2022
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafishGiulia Fasano, Valentina Muto, Francesca Clementina Radio, et al.American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.American Journal of Human Genetics|August 13, 2019
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit AnomaliesRichard J Holt, Rodrigo M Young, Berta Crespo, et al.American Journal of Medical Genetics. Part A|July 2, 2013
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypesCynthia J Curry, Jill A Rosenfeld, Erica Grant, et al.American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.Cell|September 27, 2014
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesShinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, et al.Pageof 5