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1 Ergebnisse
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Novel pathogenic variants and quantitative phenotypic analy..:
Zhang, Chaofan
;
Jolly, Angad
;
Shayota, Brian J.
...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100074 , 2022
Link:
https://doi.org/10.1016/j.xhgg.2021.100074
RT Journal T1
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.xhgg.2021.100074&Exemplar=1&LAN=DE A1 Zhang, Chaofan A1 Jolly, Angad A1 Shayota, Brian J. A1 Mazzeu, Juliana F. A1 Du, Haowei A1 Dawood, Moez A1 Soper, Patricia Celestino A1 Ramalho de Lima, Ariadne A1 Ferreira, Bárbara Merfort A1 Coban-Akdemir, Zeynep A1 White, Janson A1 Shears, Deborah A1 Thomson, Fraser Robert A1 Douglas, Sarah Louise A1 Wainwright, Andrew A1 Bailey, Kathryn A1 Wordsworth, Paul A1 Oldridge, Mike A1 Lester, Tracy A1 Calder, Alistair D. A1 Dumic, Katja A1 Banka, Siddharth A1 Donnai, Dian A1 Jhangiani, Shalini N. A1 Potocki, Lorraine A1 Chung, Wendy K. A1 Mora, Sara A1 Northrup, Hope A1 Ashfaq, Myla A1 Rosenfeld, Jill A. PB Elsevier BV YR 2022 SN 2666-2477 JF Human Genetics and Genomics Advances VO 3 IS 1 SP 100074 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2021.100074 DO https://doi.org/10.1016/j.xhgg.2021.100074 SF ELIB - SuUB Bremen
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