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A novel pathogenic variant in DYNC1H1 causes various upper ..:
Viollet, Louis M.
;
Swoboda, Kathryn J.
;
Mao, Rong
...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104063 , 2020
Link:
https://doi.org/10.1016/j.ejmg.2020.104063
RT Journal T1
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ejmg.2020.104063&Exemplar=1&LAN=DE A1 Viollet, Louis M. A1 Swoboda, Kathryn J. A1 Mao, Rong A1 Best, Hunter A1 Ha, Youna A1 Toutain, Annick A1 Guyant-Marechal, Lucie A1 Laroche-Raynaud, Cecile A1 Ghorab, Karima A1 Barthez, Marie Anne A1 Pedespan, Jean Michel A1 Hernandorena, Xavier A1 Lia, Anne-Sophie A1 Deleuze, Jean-Francois A1 Masson, Cecile A1 Nelson, Isabelle A1 Nectoux, Juliette A1 Si, Yue PB Elsevier BV YR 2020 SN 1769-7212 JF European Journal of Medical Genetics VO 63 IS 12 SP 104063 LK http://dx.doi.org/https://doi.org/10.1016/j.ejmg.2020.104063 DO https://doi.org/10.1016/j.ejmg.2020.104063 SF ELIB - SuUB Bremen
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