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BMC Medical Genetics|December 19, 2006
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi populationMoeenaldeen Al-Sayed, Faiqa Imtiaz, Osama A Alsmadi, et al.BMC Medical Genetics|January 31, 2018
Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case reportMohammad M Al-Qattan, Doaa F Andejani, Nadia A Sakati, et al.Journal of Pediatric Genetics|August 9, 2020
LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different PhenotypesNuha Alfurayh, Fahad Alsaif, Nouf Alballa, et al.BMC Endocrine Disorders|March 18, 2017
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing lossKhushnooda Ramzan, Bassam Bin-Abbas, Lolwa Al-Jomaa, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2021
Residual risk for additional recessive diseases in consanguineous couplesLama AlAbdi, Shatha Alrashseed, Ahood Alsulaiman, et al.Gene|March 21, 2013
Homozygosity mapping identifies a novel GIPC3 mutation causing congenital nonsyndromic hearing loss in a Saudi familyKhushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, et al.Frontiers in Endocrinology|June 14, 2024
Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi ArabiaAfaf Alsagheir, Abdullah Al-Ashwal, Amal Binladen, et al.European Journal of Pediatrics|September 25, 2010
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxationOla Khalifa, Faiqa Imtiaz, Nadia Al-Sakati, et al.Frontiers in Endocrinology|December 2, 2024
Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective studyAbdullah Al-Ashwal, Manal AlHelal, Afaf AlSagheir, et al.Genes|October 27, 2022
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary TractMohamed H Al-Hamed, John A Sayer, Nada Alsahan, et al.Pageof 7