Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Wendy E. Goodwin"'
Autor:
Ian M. Campbell, Sung Sup Park, Soo Hyun Seo, Susanne Stemmler, John K. Fink, Nichole D. Hein, Marjorie Withers, Moon Woo Seong, Wendy E. Goodwin, Bo Yuan, Pawel Stankiewicz, Izabela Karbassi, Brett C. Baggett, Paolo Moretti, Christine R. Beck, Sat Dev Batish, James R. Lupski, María Jesús Sobrido, Philip M. Boone, Jennifer Scull, Christine J. Shaw, Andrés Ordóñez-Ugalde, Beatriz Quintáns
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6838397a4795f11e8e086339dd2d7b47
http://hdl.handle.net/20.500.11940/4512
http://hdl.handle.net/20.500.11940/4512
Autor:
Justin E. Statt, Wendy E. Goodwin
Publikováno v:
PM&R. 5:S202-S202
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc8581523749518f4ea5894338f512c0
https://doi.org/10.1016/j.pmrj.2013.08.284
https://doi.org/10.1016/j.pmrj.2013.08.284
