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1 Ergebnisse
1
Retrospective analysis of a clinical exome sequencing cohor..:
Chen, Chun-An
;
Lattier, John
;
Zhu, Wenmiao
...
Genetics in Medicine. 24 (2022) 2 - p. 364-373 , 2022
Link:
https://doi.org/10.1016/j.gim.2021.09.017
RT Journal T1
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2021.09.017&Exemplar=1&LAN=DE A1 Chen, Chun-An A1 Lattier, John A1 Zhu, Wenmiao A1 Rosenfeld, Jill A1 Wang, Lei A1 Scott, Tiana M. A1 Du, Haowei A1 Patel, Vipulkumar A1 Dang, Anh A1 Magoulas, Pilar A1 Streff, Haley A1 Sebastian, Jessica A1 Svihovec, Shayna A1 Curry, Kathryn A1 Delgado, Mauricio R. A1 Hanchard, Neil A. A1 Lalani, Seema A1 Marom, Ronit A1 Madan-Khetarpal, Suneeta A1 Saenz, Margarita A1 Dai, Hongzheng A1 Meng, Linyan A1 Xia, Fan A1 Bi, Weimin A1 Liu, Pengfei A1 Posey, Jennifer E. A1 Scott, Daryl A. A1 Lupski, James R. A1 Eng, Christine M. A1 Xiao, Rui PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 2 SP 364 OP 373 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2021.09.017 DO https://doi.org/10.1016/j.gim.2021.09.017 SF ELIB - SuUB Bremen
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