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Frontiers in Genetics|February 13, 2023
Detailed genetic and clinical analysis of a novel <i>de novo</i> variant in <i>HPRT1</i>: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndromeAlbandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, et al.
Gene|May 21, 2013
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IVAlBandary AlBakheet, Aliya Qari, Dilek Colak, et al.
Frontiers in Psychiatry|January 7, 2025
Case report: Clinical and genetic characterization of a novel <i>ALDH7A1</i> variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two siblingsMustafa A Salih, Albandary AlBakheet, Rawan Almass, et al.
Brain & Development|September 7, 2011
Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous systemAziza K Chedrawi, Zuhair N Al-Hassnan, Muhammad Al-Muhaizea, et al.
Journal of Clinical Medicine|December 11, 2022
Global Transcriptional Profiling of Granulosa Cells from Polycystic Ovary Syndrome Patients: Comparative Analyses of Patients with or without History of Ovarian Hyperstimulation Syndrome Reveals Distinct Biomarkers and PathwaysMaha H Daghestani, Huda A Alqahtani, AlBandary AlBakheet, et al.
Neuromuscular Disorders : NMD|July 4, 2020
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndromeMohammad A Al-Muhaizea, Laila AlQuait, Afnan AlRasheed, et al.
Frontiers in Psychiatry|November 15, 2024
A novel missense mutation in <i>ISCA2</i> causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, et al.
BMC Neurology|May 27, 2020
Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)Mohammed Z Seidahmed, Muddathir H Hamad, Albandary AlBakheet, et al.
European Journal of Medical Genetics|September 16, 2008
Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemiaNamik Kaya, Mohammad Al-Owain, Albandary Albakheet, et al.
Clinical Dysmorphology|February 27, 2024
Novel UBE3B mutations: report of eight patients with Kaufman oculocerebrofacial syndrome with additional clinical findings from a highly consanguineous populationAlBandary Albakheet, Duaa Almuallami, Rawan Almass, et al.
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