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1 Ergebnisse
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Deep clinicopathological phenotyping identifies a previousl..:
Calame, Daniel G.
;
Fatih, Jawid M.
;
Herman, Isabella
...
Annals of Clinical and Translational Neurology. 8 (2021) 10 - p. 2052-2058 , 2021
Link:
https://doi.org/10.1002/acn3.51454
RT Journal T1 <Title>Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_acn3.51454&Exemplar=1&LAN=DE A1 Calame, Daniel G. A1 Fatih, Jawid M. A1 Herman, Isabella A1 Coban‐Akdemir, Zeynep A1 Du, Haowei A1 Mitani, Tadahiro A1 Jhangiani, Shalini N. A1 Marafi, Dana A1 Gibbs, Richard A. A1 Posey, Jennifer E. A1 Mehta, Vidya P. A1 Mohila, Carrie A. A1 Abid, Farida A1 Lotze, Timothy E. A1 Pehlivan, Davut A1 Adesina, Adekunle M. A1 Lupski, James R. PB Wiley YR 2021 SN 2328-9503 SN 2328-9503 JF Annals of Clinical and Translational Neurology VO 8 IS 10 SP 2052 OP 2058 LK http://dx.doi.org/https://doi.org/10.1002/acn3.51454 DO https://doi.org/10.1002/acn3.51454 SF ELIB - SuUB Bremen
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