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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K. Guo H, et al. Among authors: schaefer b. Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. Am J Hum Genet. 2020. PMID: 33157009 Free PMC article.
X-linked olivopontocerebellar atrophy.
Lutz R, Bodensteiner J, Schaefer B, Gay C. Lutz R, et al. Among authors: schaefer b. Clin Genet. 1989 Jun;35(6):417-22. doi: 10.1111/j.1399-0004.1989.tb02966.x. Clin Genet. 1989. PMID: 2661059 Review.
Comparison of rivaroxaban and low molecular weight heparin in the treatment of cancer-associated venous thromboembolism: a Swedish national population-based register study.
Linder M, Ekbom A, Brobert G, Vogtländer K, Balabanova Y, Becattini C, Carrier M, Cohen AT, Coleman CI, Khorana AA, Lee AYY, Psaroudakis G, Abdelgawwad K, Rivera M, Schaefer B, Giunta DH. Linder M, et al. Among authors: schaefer b. J Thromb Thrombolysis. 2024 May 12. doi: 10.1007/s11239-024-02992-1. Online ahead of print. J Thromb Thrombolysis. 2024. PMID: 38735015
470 results