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Frontiers in Genetics|October 6, 2023
Prospect of genetic disorders in Saudi ArabiaAmerh S Alqahtani, Raniah S Alotibi, Taghrid Aloraini, et al.American Journal of Medical Genetics. Part A|May 9, 2018
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndromeSaud Alsahli, Stefan T Arold, Ahmed Alfares, et al.European Journal of Medical Genetics|April 19, 2021
Hypospadias in ring X syndromeHatem Elghezal, Khowla Alfayez, Inesse Ben Abdallah, et al.Annals of Human Genetics|May 14, 2020
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific databaseLamia Alsubaie, Randa Alkhalaf, Taghrid Aloraini, et al.American Journal of Medical Genetics. Part A|September 13, 2021
The rate of secondary genomic findings in the Saudi populationTaghrid Aloraini, Lamia Alsubaie, Sarah Alasker, et al.Frontiers in Genetics|July 6, 2019
Delta Like-1 Gene Mutation: A Novel Cause of Congenital Vertebral MalformationTlili Barhoumi, Marwan Nashabat, Bandar Alghanem, et al.Thyroid : Official Journal of the American Thyroid Association|October 29, 2025
Germline Telomere-Regulating Gene Variants Are Not Associated with Thyroid Cancer in a Saudi Arabian PopulationAli S Alzahrani, Burair Alsaihati, Allianah Benito, et al.Genes|September 27, 2025
Detection of Chromosomal Aneuploidy Using Exome SequencingMohamed H Al-Hamed, Sateesh Maddirevula, Nabil Moghrabi, et al.Journal of Medical Genetics|July 26, 2011
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, et al.Annals of Saudi Medicine|February 3, 2022
Common disease-associated gene variants in a Saudi Arabian populationMariam Aleissa, Taghrid Aloraini, Lamia Fahad Alsubaie, et al.Pageof 5