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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154.
Cells. 2022.
PMID: 36231115
Free PMC article.
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N.
Alfadhel M, et al. Among authors: al shahrani sa.
Eur J Paediatr Neurol. 2018 Jan;22(1):46-55. doi: 10.1016/j.ejpn.2017.10.003. Epub 2017 Oct 16.
Eur J Paediatr Neurol. 2018.
PMID: 29122497
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