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American Journal of Human Genetics|January 1, 2019
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to ThriveSimon Edvardson, Claudia M Nicolae, Grace J Noh, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipRonen Spiegel, Hanna Mandel, Ann Saada, et al.The Journal of Pediatrics|August 13, 2016
Extending the Clinical Phenotype of Adenosine Deaminase 2 DeficiencyTal Ben-Ami, Shoshana Revel-Vilk, Rebecca Brooks, et al.Human Molecular Genetics|January 15, 2005
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish populationAvraham Shaag, Tom Walsh, Paul Renbaum, et al.Neurogenetics|July 26, 2018
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelinationTamar Harel, Debra Q Y Quek, Bernice H Wong, et al.American Journal of Human Genetics|September 27, 2008
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhoodAvraham Zeharia, Avraham Shaag, Riekelt H Houtkooper, et al.Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.American Journal of Medical Genetics. Part A|November 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafnessVincent J Guen, Simon Edvardson, Nitay D Fraenkel, et al.American Journal of Human Genetics|September 8, 2009
Acute infantile liver failure due to mutations in the TRMU geneAvraham Zeharia, Avraham Shaag, Orit Pappo, et al.Journal of Medical Genetics|January 15, 2014
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationAsaf Ta-Shma, Nael El-lahham, Simon Edvardson, et al.Pageof 10