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European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.American Journal of Medical Genetics. Part A|November 21, 2013
Isolated truncus arteriosus associated with a mutation in the plexin-D1 geneAsaf Ta-Shma, Ciro Leonardo Pierri, Polina Stepensky, et al.Genome Research|April 14, 2011
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisYaniv Erlich, Simon Edvardson, Emily Hodges, et al.Journal of Assisted Reproduction and Genetics|April 23, 2015
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermiaEsther Maor-Sagie, Yuval Cinnamon, Barak Yaacov, et al.European Journal of Human Genetics : EJHG|August 4, 2016
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunitAvraham Zeharia, Jonathan R Friedman, Ana Tobar, et al.Cancer Genetics|January 26, 2016
Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failureYael Goldberg, Naama Halpern, Ayala Hubert, et al.Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.American Journal of Medical Genetics. Part A|February 7, 2020
Grandparental genotyping enhances exome variant interpretationHagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, et al.Prenatal Diagnosis|June 16, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingTova Wagner, Duha Fahham, Ayala Frumkin, et al.American Journal of Human Genetics|December 29, 2009
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationSimon Edvardson, Avraham Shaag, Shamir Zenvirt, et al.Pageof 10