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1 Ergebnisse
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VPS51 biallelic variants cause microcephaly with brain malf..:
Uwineza, Annette
;
Caberg, Jean-Hubert
;
Hitayezu, Janvier
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103704. , 2019
Link:
https://hal.science/hal-02859833
RT Journal T1
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report
UL https://suche.suub.uni-bremen.de/peid=base-ftnormandieuniv:oai:HAL:hal-02859833v1&Exemplar=1&LAN=DE A1 Uwineza, Annette A1 Caberg, Jean-Hubert A1 Hitayezu, Janvier A1 Wenric, Stephane A1 Mutesa, Leon A1 Vial, Yoann A1 Drunat, Séverine A1 Passemard, Sandrine A1 Verloes, Alain A1 El Ghouzzi, Vincent A1 Bours, Vincent PB HAL CCSD; Elsevier YR 2019 K1 EARP K1 Endosomes K1 GARP K1 Golgi K1 Golgipathies K1 Neurodevelopmental disorders K1 Postnatal microcephaly K1 Rwanda K1 VPS51 K1 [SDV.GEN]Life Sciences [q-bio]/Genetics K1 [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103704 LK http://dx.doi.org/https://hal.science/hal-02859833 DO https://hal.science/hal-02859833 SF ELIB - SuUB Bremen
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