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1 Ergebnisse
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FOSL2 truncating variants in the last exon cause a neurodev..:
Cospain, Auriane
;
Rivera-Barahona, Ana
;
Dumontet, Erwan
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.002. , 2022
Link:
https://univ-rennes.hal.science/hal-03954791
RT Journal T1
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects
UL https://suche.suub.uni-bremen.de/peid=base-ftunivrennes1hal:oai:HAL:hal-03954791v1&Exemplar=1&LAN=DE A1 Cospain, Auriane A1 Rivera-Barahona, Ana A1 Dumontet, Erwan A1 Gener, Blanca A1 Bailleul-Forestier, Isabelle A1 Meyts, Isabelle A1 Jouret, Guillaume A1 Isidor, Bertrand A1 Brewer, Carole A1 Wuyts, Wim A1 Moens, Leen A1 Delafontaine, Selket A1 Keung Lam, Wayne Wing A1 van den Bogaert, Kris A1 Boogaerts, Anneleen A1 Scalais, Emmanuel A1 Besnard, Thomas A1 Cogne, Benjamin A1 Guissard, Christophe A1 Rollier, Paul A1 Carre, Wilfrid A1 Bouvet, Regis A1 Tarte, Karin A1 Gómez-Carmona, Ricardo A1 Lapunzina, Pablo A1 Odent, Sylvie A1 Faoucher, Marie A1 Dubourg, Christele A1 Ruiz-Pérez, Víctor A1 Devriendt, Koen A1 Pasquier, Laurent A1 Pérez-Jurado, Luis PB HAL CCSD; Nature Publishing Group YR 2022 K1 AP-1 complex K1 Adams-Oliver syndrome K1 Aplasia cutis congenita of scalp K1 Enamel hypoplasia K1 FOSL2 K1 FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome K1 FRA-2 K1 MESH: Humans K1 MESH: Scalp K1 MESH: Autism Spectrum Disorder K1 MESH: HEK293 Cells K1 MESH: Transcription Factor AP-1 K1 MESH: Exons K1 MESH: Ectodermal Dysplasia K1 MESH: Neurodevelopmental Disorders K1 MESH: RNA K1 Messenger K1 MESH: Fos-Related Antigen-2 K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.002 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-03954791 DO https://univ-rennes.hal.science/hal-03954791 SF ELIB - SuUB Bremen
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