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Missense variants in DPYSL5 cause a neurodevelopmental diso..:
Jeanne, Médéric
;
Demory, Hélène
;
Moutal, Aubin
...
qt9t75z0zj. , 2021
Link:
https://escholarship.org/uc/item/9t75z0zj
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-ftcdlib:oai:escholarship.org:ark:_13030_qt9t75z0zj&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 MS 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, Sébastien 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 eScholarship, University of California YR 2021 K1 Biological Sciences K1 Biomedical and Clinical Sciences K1 Genetics K1 Rare Diseases K1 Neurosciences K1 Brain Disorders K1 Pediatric K1 Intellectual and Developmental Disabilities (IDD) K1 Mental Health K1 Aetiology K1 2.1 Biological and endogenous factors K1 Neurological K1 Adult K1 Agenesis of Corpus Callosum K1 Cerebellum K1 Child K1 Preschool K1 Female K1 Humans K1 Hydrolases K1 Intellectual Disability K1 Male K1 Microtubule-Associated Proteins K1 Models K1 Molecular K1 Mutation K1 Missense K1 Neurodevelopmental Disorders K1 Tubulin K1 Young Adult 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 Medical and Health Sciences K1 Genetics & Heredity K1 Health sciences JF qt9t75z0zj LK http://dx.doi.org/https://escholarship.org/uc/item/9t75z0zj DO https://escholarship.org/uc/item/9t75z0zj SF ELIB - SuUB Bremen
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