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Genes|January 21, 2022
A Novel <i>GEMIN4</i> Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and CataractsHesham Aldhalaan, Albandary AlBakheet, Sarah AlRuways, et al.American Journal of Medical Genetics. Part A|December 22, 2023
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophyRuqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, et al.Frontiers in Pediatrics|March 16, 2023
Clinical, radiological, and genetic characterization of <i>SLC13A5</i> variants in Saudi families: Genotype phenotype correlation and brief review of the literatureHanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, et al.Plos One|May 25, 2013
Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young womenDilek Colak, Asmaa Nofal, Albandary Albakheet, et al.Genomics|October 12, 2010
Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathwaysDilek Colak, Hesham Al-Dhalaan, Michael Nester, et al.Orphanet Journal of Rare Diseases|August 8, 2025
Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafnessHanan AlQudairy, Mohammad A AlMuhaizea, Mohamed Tohary, et al.American Journal of Human Genetics|October 1, 2013
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delayMoeenaldeen D Al-Sayed, Hamad Al-Zaidan, Albandary Albakheet, et al.JIMD Reports|July 14, 2021
SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletionMazhor Aldosary, Shahad Baselm, Maha Abdulrahim, et al.Journal of Inherited Metabolic Disease|September 20, 2012
Clinical and biochemical features associated with BCS1L mutationMohammed Al-Owain, Dilek Colak, Albandary Albakheet, et al.Cells|October 14, 2022
A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi FamiliesMazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, et al.Pageof 3