Showing results (41-50 of 88) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|November 22, 2012
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genesRanad Shaheen, Eissa Faqeih, Muneera J Alshammari, et al.
American Journal of Human Genetics|March 26, 2013
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndromeRanad Shaheen, Mona Aglan, Kim Keppler-Noreuil, et al.
Molecular Genetics and Metabolism Reports|February 2, 2019
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi ArabiaMohamed H Al-Hamed, Faiqa Imtiaz, Zuhair Al-Hassnan, et al.
Plos One|July 31, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi ArabiaAbdulrahman Al-Hussaini, Mohammed AlMannai, Muhannad Alruwaithi, et al.
Cardiology|April 26, 2017
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 MutationZarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, et al.
American Journal of Human Genetics|May 20, 2014
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDHRanad Shaheen, Zuhair Rahbeeni, Amal Alhashem, et al.
Annals of Saudi Medicine|June 5, 2014
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindredsMuhammad Faiyaz-Ul-Haque, Moeenaldeen D Al-Sayed, Eissa Faqeih, et al.
American Journal of Human Genetics|July 31, 2012
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfismRanad Shaheen, Eissa Faqeih, Hanan E Shamseldin, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
Congenital disorders of glycosylation: The Saudi experienceSarah Alsubhi, Amal Alhashem, Eissa Faqeih, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
Pageof 9