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CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.
Am J Med Genet A. 2025 Jan;197(1):e63784. doi: 10.1002/ajmg.a.63784. Epub 2024 Aug 22.
Am J Med Genet A. 2025.
PMID: 39171352
Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Almuqbil MA, Tabassum S, Muthaffar OY, Ghamdi F, Al Masseri Z, Alsaman A, Alkhater RA.
Almuqbil MA, et al.
Ann Clin Transl Neurol. 2024 Apr;11(4):1063-1066. doi: 10.1002/acn3.52020. Epub 2024 Feb 22.
Ann Clin Transl Neurol. 2024.
PMID: 38389300
Free PMC article.
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High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.
Higashimoto T, Kim AY, Ogawa JT, Sloan JL, Almuqbil MA, Carlson JM, Manoli I, Venditti CP, Gunay-Aygun M, Wang T.
Higashimoto T, et al. Among authors: almuqbil ma.
JIMD Rep. 2019 Dec 13;51(1):17-24. doi: 10.1002/jmd2.12087. eCollection 2020 Jan.
JIMD Rep. 2019.
PMID: 32071835
Free PMC article.
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Revising the Psychiatric Phenotype of Homocystinuria.
Almuqbil MA, Waisbren SE, Levy HL, Picker JD.
Almuqbil MA, et al.
Genet Med. 2019 Aug;21(8):1827-1831. doi: 10.1038/s41436-018-0419-4. Epub 2019 Jan 15.
Genet Med. 2019.
PMID: 30643218
Free article.
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