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Retinal Cases & Brief Reports|March 16, 2017
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROMEIgor Kozak, Darren T Oystreck, Khaled K Abu-Amero, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2017
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretationDorota Monies, Sateesh Maddirevula, Wesam Kurdi, et al.
Frontiers in Genetics|July 11, 2022
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat SyndromeMalak Ali Alghamdi, Hicham Benabdelkamel, Afshan Masood, et al.
World Neurosurgery|December 31, 2025
Epidemiology and Long-Term treatment Outcome of Central Neurocytoma: A Retrospective National Study from Saudi ArabiaOsama Khojah, Balgees Ajlan, Maher Hassounah, et al.
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