Showing results (41-50 of 49) with videos related to
Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
The Journal of Biological Chemistry|June 16, 2012
Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle diseaseEloisa Carta, Seo-Kyung Chung, Victoria M James, et al.Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.The Journal of Biological Chemistry|October 11, 2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanismsAnna Bode, Sian-Elin Wood, Jonathan G L Mullins, et al.Genome Research|April 29, 2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disordersHeather Fairfield, Anuj Srivastava, Guruprasad Ananda, et al.Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.Nature Genetics|April 8, 2015
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionNaiara Akizu, Vincent Cantagrel, Maha S Zaki, et al.Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.Nature Genetics|August 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephalyDaniela A Braun, Jia Rao, Geraldine Mollet, et al.Pageof 5