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A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Am J Med Genet A. 2022 Apr;188(4):1299-1306. doi: 10.1002/ajmg.a.62631. Epub 2021 Dec 31.
Am J Med Genet A. 2022.
PMID: 34970864
Free PMC article.
Cochlear nerve deficiency in SOX11-related Coffin-Siris syndrome.
Alburaiky S, Taylor J, O'Grady G, Thomson G, Perry D, England EM, Yap P.
Alburaiky S, et al.
Am J Med Genet A. 2022 Aug;188(8):2460-2465. doi: 10.1002/ajmg.a.62851. Epub 2022 Jun 1.
Am J Med Genet A. 2022.
PMID: 35642566
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Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability.
Poquérusse J, Whitford W, Taylor J, Alburaiky S, Snell RG, Lehnert K, Jacobsen JC.
Poquérusse J, et al. Among authors: alburaiky s.
J Hum Genet. 2022 Jan;67(1):19-26. doi: 10.1038/s10038-021-00955-5. Epub 2021 Jul 9.
J Hum Genet. 2022.
PMID: 34244600
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Opsoclonus-myoclonus in Aicardi-Goutières syndrome.
Alburaiky S, Dale RC, Crow YJ, Jones HF, Wassmer E, Melki I, Boespflug-Tanguy O, Do Cao J, Gras D, Sharpe C.
Alburaiky S, et al.
Dev Med Child Neurol. 2021 Dec;63(12):1483-1486. doi: 10.1111/dmcn.14969. Epub 2021 Jun 21.
Dev Med Child Neurol. 2021.
PMID: 34155623
Free article.
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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST, Le Quesne Stabej P.
Yap P, et al. Among authors: alburaiky s.
Eur J Hum Genet. 2024 Jan;32(1):125-129. doi: 10.1038/s41431-023-01484-9. Epub 2023 Nov 6.
Eur J Hum Genet. 2024.
PMID: 37926713
Free PMC article.
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The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Park JH, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund SL, Andersen PM.
Park JH, et al. Among authors: alburaiky s.
Brain Commun. 2023 Jan 27;5(1):fcad017. doi: 10.1093/braincomms/fcad017. eCollection 2023.
Brain Commun. 2023.
PMID: 36793789
Free PMC article.
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