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Autor:
Alaa Afif Mohammed, Yong-hui Jiang, Thalia Antoniadi, Cynthia J. Curry, Celia Zazo Seco, Dorine Bax, Slavé Petrovski, Samuel J.H. Clokie, Vandana Shashi, Stephen W. Wilson, Dianne Gerrelli, Nicola K. Ragge, Marco Tartaglia, Nicolas Chassaing, Andrea Ciolfi, Marleen Simon, Bruce D. Gelb, Helle Andersen, Zöe Powis, Patrick Calvas, Jennifer A. Sullivan, Fabiola Ceroni, Constance Smith-Hicks, Emanuele Bellacchio, Kristina Pilekær Sørensen, Rodrigo M. Young, Christina Fagerberg, Alessandro De Luca, Ellen van Binsbergen, Luigi Memo, William B. Dobyns, Anna Chassevent, Berta Crespo, Richard J. Holt
Publikováno v:
Holt, R J, Young, R M, Crespo, B, Ceroni, F, Curry, C J, Bellacchio, E, Bax, D A, Ciolfi, A, Simon, M, Fagerberg, C R, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, W B, Mohammed, A A, Clokie, S J H, Zazo Seco, C, Jiang, Y H, Sørensen, K P, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, B D, Wilson, S W, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P & Ragge, N K 2019, ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ', American Journal of Human Genetics, vol. 105, no. 3, pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005
American Journal of Human Genetics
American Journal of Human Genetics
The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with international pooling of cases. Here, we describe seven individuals who have diverse yet overlapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ac6035c7582657339b72496940ad80
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf
https://findresearcher.sdu.dk:8443/ws/files/153983581/De_Novo_Missense_Variants_in_FBXW11_Cause_Diverse_Developmental_Phenotypes_Including_Brain_Eye_and_Digit_Anomalies.pdf