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Pediatric Neurology|December 15, 2017
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 PatientsFuad Al Mutairi, Majid Alfadhel, Marwan Nashabat, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patientsMonique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.
Orphanet Journal of Rare Diseases|October 12, 2021
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trialMajid Alfadhel, Marwan Nashabat, Mohammed Saleh, et al.
Nature Genetics|February 2, 2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun Shen, Edward C Gilmore, Christine A Marshall, et al.
Clinical Genetics|November 16, 2019
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndromeHisham Alkuraya, Nisha Patel, Niema Ibrahim, et al.
American Journal of Human Genetics|April 13, 2010
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndromeYun Li, Barbara Pawlik, Nursel Elcioglu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2020
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohortEssa Alharby, Eissa A Faqeih, Mohammed Saleh, et al.
American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenancePenelope E Bonnen, John W Yarham, Arnaud Besse, et al.
BMC Medical Genomics|July 19, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populationsAhmed Alfares, Lamia Alsubaie, Taghrid Aloraini, et al.
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