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European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.European Journal of Human Genetics : EJHG|June 30, 2016
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorderMaria M Alves, Danny Halim, Reza Maroofian, et al.American Journal of Human Genetics|October 26, 2010
Defective mitochondrial mRNA maturation is associated with spastic ataxiaAndrew H Crosby, Heema Patel, Barry A Chioza, et al.Journal of Medical Genetics|December 18, 2012
Mutation of HERC2 causes developmental delay with Angelman-like featuresGaurav V Harlalka, Emma L Baple, Harold Cross, et al.Plos Genetics|September 27, 2021
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorderZineb Ammous, Lettie E Rawlins, Hannah Jones, et al.American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.Neurology. Genetics|March 8, 2019
Copy number variation of LINGO1 in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.Neurology. Genetics|March 28, 2018
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.Nature Genetics|May 26, 2015
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndromeVafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, et al.Proceedings of the National Academy of Sciences of the United States of America|June 21, 2022
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and miceGuney Bademci, María Lachgar-Ruiz, Mangesh Deokar, et al.Pageof 4