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1 Ergebnisse
1
De Novo Missense Variants in FBXW11 Cause Diverse Developme..:
Holt, Richard, J
;
Young, Rodrigo, M
;
Crespo, Berta
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.07.005. , 2019
Link:
https://inserm.hal.science/inserm-04379659
RT Journal T1
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
UL https://suche.suub.uni-bremen.de/peid=base-ftanrparis:oai:HAL:inserm-04379659v1&Exemplar=1&LAN=DE A1 Holt, Richard, J A1 Young, Rodrigo, M A1 Crespo, Berta A1 Ceroni, Fabiola A1 Curry, Cynthia, J A1 Bellacchio, Emanuele A1 Bax, Dorine, A A1 Ciolfi, Andrea A1 Simon, Marleen A1 Fagerberg, Christina, R A1 van Binsbergen, Ellen A1 de Luca, Alessandro A1 Memo, Luigi A1 Dobyns, William, B A1 Mohammed, Alaa Afif A1 Clokie, Samuel, J H A1 Zazo Seco, Celia A1 Jiang, Yong-Hui A1 Sørensen, Kristina, P A1 Andersen, Helle A1 Sullivan, Jennifer A1 Powis, Zöe A1 Chassevent, Anna A1 Smith-Hicks, Constance A1 Petrovski, Slavé A1 Antoniadi, Thalia A1 Shashi, Vandana A1 Gelb, Bruce, D A1 Wilson, Stephen, W A1 Gerrelli, Dianne A1 Tartaglia, Marco A1 Chassaing, Nicolas A1 Calvas, Patrick A1 Ragge, Nicola, K PB HAL CCSD; Elsevier (Cell Press) YR 2019 K1 FBXW11 K1 Noonan syndrome K1 WD40 K1 Wnt K1 brain K1 development K1 digit K1 eye K1 hedgehog K1 neurodevelopment K1 MESH: Adolescent K1 MESH: Adult K1 MESH: Mutation K1 Missense K1 MESH: Phenotype K1 MESH: Ubiquitin-Protein Ligases K1 MESH: beta-Transducin Repeat-Containing Proteins K1 MESH: Brain K1 MESH: Child K1 Preschool K1 MESH: Eye Abnormalities K1 MESH: Female K1 MESH: Fingers K1 MESH: Humans K1 MESH: Male K1 [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.07.005 LK http://dx.doi.org/https://inserm.hal.science/inserm-04379659 DO https://inserm.hal.science/inserm-04379659 SF ELIB - SuUB Bremen
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