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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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2008
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan diseaseNamik Kaya, Faiqa Imtiaz, Dilek Colak, et al.
Annals of Clinical and Translational Neurology|September 27, 2019
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screeningMajid Alfadhel, Muhammad Umair, Bader Almuzzaini, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2018
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid DyshormonogenesisMinjing Zou, Ali S Alzahrani, Ali Al-Odaib, et al.
Annals of Neurology|January 4, 2012
A novel X-linked disorder with developmental delay and autistic featuresNamik Kaya, Dilek Colak, Albandary Albakheet, et al.
Omics : a Journal of Integrative Biology|February 28, 2020
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease PathwaysMazhor Aldosary, AlBandary Al-Bakheet, Hesham Al-Dhalaan, et al.
Journal of Paediatrics and Child Health|March 25, 2017
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disordersMajid Alfadhel, Ali Al Othaim, Saif Al Saif, et al.
Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.
Nature Genetics|December 4, 2012
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolismMomoko Horikoshi, Hanieh Yaghootkar, Dennis O Mook-Kanamori, et al.
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