Zobrazeno 1 - 2
of 2
pro vyhledávání: '"M.R.C.P. Virginia E. Kimonis M.D."'
Autor:
Susan Knoblach, Angèle Nalbandian, Katrina J. Llewellyn, Svetlana Ghimbovschi, M.R.C.P. Virginia E. Kimonis M.D., Eric P. Hoffman, Zuyi Wang, Jouni Vesa
Publikováno v:
Clinical and Translational Science. 8:8-16
Dominant mutations in the valosin-containing protein (VCP) gene cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e730018b71d3ba79ee54beb25d0f2f0
https://doi.org/10.1111/cts.12241
https://doi.org/10.1111/cts.12241
Autor:
Weiwei Fan, Svetlana Ghimbovschi, M.R.C.P. Virginia E. Kimonis M.D., Eric P. Hoffman, James L. Resnick, Pinar E. Coskun, Hailing Su, Susan Knoblach, Angèle Nalbandian, Douglas C. Wallace, Puya G. Yazdi
Publikováno v:
Clinical and Translational Science. 6:347-355
Prader-Willi syndrome (PWS) is a genetic disorder caused by deficiency of imprinted gene expression from the paternal chromosome 15q11-15q13 and clinically characterized by neonatal hypotonia, short stature, cognitive impairment, hypogonadism, hyperp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a143ad50614ad22e361000bafd20c0d
https://doi.org/10.1111/cts.12083
https://doi.org/10.1111/cts.12083