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American Journal of Medical Genetics. Part A|September 9, 2017
Peeling skin syndrome associated with novel variant in FLG2 geneAhmed Alfares, Sultan Al-Khenaizan, Fuad Al MutairiJournal of Pediatric Genetics|October 21, 2022
De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi ArabiaAmal Alhashem, Saria Alazmeh, Ayla Barakat, et al.Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association|June 22, 2023
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimicBader Shirah, Hussein Algahtani, Raghad Algahtani, et al.JCEM Case Reports|December 11, 2024
Pachydermoperiostosis Due to a Novel HPGD Splicing Site Mutation Masquerading as AcromegalyMussa Almalki, Balgees Alghamdi, Allianah Benito, et al.Clinical Case Reports|August 16, 2016
Diabetic ketoacidosis in vanishing white matterHannadi Alamri, Fuad Al Mutairi, Johara Alothman, et al.Annals of Human Genetics|December 23, 2017
A new association between CDK5RAP2 microcephaly and congenital cataractsAhmed Alfares, Ibtihal Alhufayti, Lamia Alsubaie, et al.Neurogenetics|April 12, 2019
Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizuresSaud Alsahli, Ahmed Alfares, Francisco J Guzmán-Vega, et al.Clinical Genetics|January 20, 2026
Biallelic STEAP3 Variant in Neonatal Hemophagocytic LymphohistiocytosisAbdullah H Alfalah, Mohamed Y Elsaid, Ahmed Alrajjal, et al.American Journal of Medical Genetics. Part A|July 9, 2011
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicismLaura Pilozzi-Edmonds, Thomas A Maher, Raveen K Basran, et al.Molecules (Basel, Switzerland)|June 26, 2026
Pushing the Boundaries of Biomarker Discovery in Phenylketonuria: Metabolomic Profiling Reveals Novel Biomarkers and Their Associations with PhenylalanineReem AlMalki, Shereen M Aleidi, Maha Al Mogren, et al.Pageof 5