| Title: | SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling |
Authors: | Lin, Yuh-Charn
Niceta, Marcello
Muto, Valentina
Vona, Barbara
Pagnamenta, Alistair T.
Maroofian, Reza
Beetz, Christian
van Duyvenvoorde, Hermine
Dentici, Maria Lisa
Lauffer, Peter
Vallian, Sadeq
Ciolfi, Andrea
Pizzi, Simone
Bauer, Peter
Grüning, Nana-Maria
Bellacchio, Emanuele
Del Fattore, Andrea
Petrini, Stefania
Shaheen, Ranad
Tiosano, Dov
Halloun, Rana
Pode-Shakked, Ben
Albayrak, Hatice Mutlu
Işık, Emregül
Wit Jan, M.
Dittrich, Marcus
Freire, Bruna L.
Bertola, Debora R.
Jorge, Alexander A.L.
Barel, Ortal
Sabir, Ataf H.
Al Tenaiji, Amal, M.J.
Taji, Sulaima M.
Al-Sannaa, Nouriya
Al-Abdulwahed, Hind
Digilio, Maria Cristina
Irving, Melita
Anikster, Yair
Bhavani, Gandham S.L.
Girisha, Katta M.
Haaf, Thomas
Taylor, Jenny C.
Dallapiccola, Bruno
Alkuraya, Fowzan S.
Yang, Ruey-Bing
Tartaglia, Marco |
Issue Date: | 2021 |
Relation: | The American Journal of Human Genetics 108(1), 115-133 |
URI: | http://ir.sinica.edu.tw/handle/201000000A/82109 |
ISSN: | http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=Drexel&SrcApp=hagerty_opac&KeyRecord=0002-9297&DestApp=JCR&RQ=IF_CAT_BOXPLOT |
URL: | http://dx.doi.org/10.1016/j.ajhg.2020.11.015 |
| Appears in Collections: | 生物醫學科學研究所
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