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Missense variants in DPYSL5 cause a neurodevelopmental diso..:
Jeanne, Médéric
;
Demory, Hélène
;
Moutal, Aubin
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004. , 2021
Link:
https://hal.science/hal-03221134
RT Journal T1
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
UL https://suche.suub.uni-bremen.de/peid=base-ftunivrennes1hal:oai:HAL:hal-03221134v1&Exemplar=1&LAN=DE A1 Jeanne, Médéric A1 Demory, Hélène A1 Moutal, Aubin A1 Vuillaume, Marie-Laure A1 Blesson, Sophie A1 Thépault, Rose-Anne A1 Marouillat, Sylviane A1 Halewa, Judith A1 Maas, Saskia M A1 Motazacker, M Mahdi A1 Mancini, Grazia M S A1 van Slegtenhorst, Marjon A A1 Andreou, Avgi A1 Cox, Helene A1 Vogt, Julie A1 Laufman, Jason A1 Kostandyan, Natella A1 Babikyan, Davit A1 Hancarova, Miroslava A1 Bendova, Sarka A1 Sedlacek, Zdenek A1 Aldinger, Kimberly A A1 Sherr, Elliott H A1 Argilli, Emanuela A1 England, Eleina M A1 Audebert-Bellanger, Séverine A1 Bonneau, Dominique A1 Colin, Estelle A1 Denommé-Pichon, Anne-Sophie A1 Gilbert-Dussardier, Brigitte A1 Isidor, Bertrand A1 Küry, Sebastien A1 Odent, Sylvie A1 Redon, Richard A1 Khanna, Rajesh A1 Dobyns, William B A1 Bézieau, Stéphane A1 Honnorat, Jérôme A1 Lohkamp, Bernhard A1 Toutain, Annick A1 Laumonnier, Frédéric PB HAL CCSD; Elsevier (Cell Press) YR 2021 K1 DPYSL5 K1 brain malformation K1 corpus callosum agenesis K1 de novo missense variants K1 dendrite branching K1 neurodevelopmental disorder K1 primary neuronal cultures K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004 LK http://dx.doi.org/https://hal.science/hal-03221134 DO https://hal.science/hal-03221134 SF ELIB - SuUB Bremen
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