Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Leon, YY"'
Autor:
Tang, CS, Hui, KJWS, Sham, PC, Tam, PKH, Cherny, SS, Leon, YY, So, MT, Burzynski, G, De Vries, AR, Miao, XP, Sribudiani, Y, Hofstra, RMW, Verheij, JBGM, GarciaBarceló, MM, Osinga, J, Yip, BH
Publikováno v:
HUMAN GENETICS, 127(6), 675-683. SPRINGER
Human Genetics
Human Genetics
Hirschsprung's disease (HSCR) is a congenital disorder characterised by the absence of ganglia along variable lengths of the intestine. The RET gene is the major HSCR gene. Reduced penetrance of RET mutations and phenotypic variability suggest the in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1c4b62de08442e6fe426de0c7403da
https://hdl.handle.net/11370/09b19326-689d-44ee-bcd0-c1c0e9b236fd
https://hdl.handle.net/11370/09b19326-689d-44ee-bcd0-c1c0e9b236fd
Autor:
Fernández, Raquel M.1 raquelm.fernandez.sspa@juntadeandalucia.es, Bleda, Marta2 mbleda@cipf.es, Luzón-Toro, Berta3 berta.luzon.exts@juntadeandalucia.es, García-Alonso, Luz4 lgarcia@cipf.es, Arnold, Stacey5 smarnold@jhu.edu, Sribudiani, Yunia6 yungfbp@yahoo.com, Besmond, Claude7 claude.besmond@inserm.fr, Lantieri, Francesca8 f.lantieri@unige.it, Doan, Betty1 bdoan@jhmi.edu, Ceccherini, Isabella1 isa.c@unige.it, Lyonnet, Stanislas1 stanislas.lyonnet@inserm.fr, Hofstra, Robert M. W.1 r.hofstra@erasmusmc.nl, Chakravarti, Aravinda1 aravinda@jhmi.edu, Antiňolo, Guillermo1 guillermo.antinolo.sspa@juntadeandalucia.es, Dopazo, Joaquín1 jdopazo@cipf.es, Borrego, Salud1 salud.borrego.sspa@juntadeandalucia.es, Hofstra, Robert Mw (AUTHOR), Antiñolo, Guillermo (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2013, Vol. 8 Issue 1, p1-27. 27p.
Publikováno v:
FEBS Letters; Feb2018, Vol. 592 Issue 4, p502-515, 14p
Autor:
Hongsheng Gui, Schriemer, Duco, Cheng, William W., Chauhan, Rajendra K., Antiňolo, Guillermo, Berrios, Courtney, Bleda, Marta, Brooks, Alice S., Brouwer, Rutger W. W., Burns, Alan J., Cherny, Stacey S., Dopazo, Joaquin, Eggen, Bart J. L., Griseri, Paola, Jalloh, Binta, Thuy-Linh Le, Lui, Vincent C. H., Luzón-Toro, Berta, Matera, Ivana, Ngan, Elly S. W.
Publikováno v:
Genome Biology; 3/8/2017, Vol. 18, p1-13, 13p
Autor:
Cooper, David, Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
Publikováno v:
Human Genetics; Oct2013, Vol. 132 Issue 10, p1077-1130, 54p
Publikováno v:
American Journal of Physiology: Gastrointestinal & Liver Physiology; Jul2013, Vol. 305 Issue 1, pG1-G24, 24p
Autor:
Yang, Jun, Duan, Shengyu, Zhong, Rong, Yin, Jieyun, Pu, Jiarui, Ke, Juntao, Lu, Xuzai, Zou, Li, Zhang, Hongmei, Zhu, Zhidong, Wang, Depeng, Xiao, Huasheng, Guo, Anyuan, Xia, Jiahong, Miao, Xiaoping, Tang, Shaotao, Wang, Guobin
Publikováno v:
Molecular Neurobiology; Jun2013, Vol. 47 Issue 3, p957-966, 10p, 2 Diagrams, 4 Charts, 1 Graph
Autor:
Pan, Zhi-Wen, Li, Ji-Cheng
Publikováno v:
Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology; Oct2012, Vol. 295 Issue 10, p1628-1638, 11p
Autor:
Consolato M. Sergi
This book covers the full range of pathologic conditions encountered during childhood and youth, including tumors and tumor-like conditions of all organ systems, with direct links to developmental biology pathways and genetics. It provides a user-fri
