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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: bisgin a. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.
Kiraz A, Sezer O, Alemdar A, Canbek S, Duman N, Bisgin A, Cora T, Ruhi HI, Ergoren MC, Geçkinli BB, Sag SO, Gözden HE, Oz O, Altıntaş ZM, Yalcıntepe S, Keskin A, Tak AY, Paskal ŞA, Yürekli UF, Demirtas M, Evren EU, Hanta A, Başdemirci M, Suer K, Balta B, Kocak N, Karabulut HG, Cobanogulları H, Ateş EA, Bozdoğan ST, Eker D, Ekinci S, Nergiz S, Tuncalı T, Yagbasan S, Alavanda C, Kutlay NY, Evren H, Erdoğan M, Altıner S, Sanlidag T, Gonen GA, Vicdan A, Eras N, Eker HK, Balasar O, Tuncel G, Dundar M, Gurkan H, Temel SG. Kiraz A, et al. Among authors: bisgin a. J Med Virol. 2023 Feb;95(2):e28457. doi: 10.1002/jmv.28457. J Med Virol. 2023. PMID: 36597901
111 results