Zobrazeno 1 - 5
of 5
pro vyhledávání: '"K. Vanessa Carias"'
Autor:
K. Vanessa Carias, Rachel Wevrick
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 344-358 (2019)
Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder causing endocrine, musculoskeletal, and neurological dysfunction. PWS is caused by the inactivation of contiguous genes, complicating the development of targeted therapeutics. Clinical
Externí odkaz:
https://doaj.org/article/dd7ee63260e34d81b6f4b72a4934654e
Autor:
Gillian R. Currie, Brittany Gerber, Diane Lorenzetti, Karen MacDonald, Susanne M. Benseler, Francois P. Bernier, Kym M. Boycott, K. Vanessa Carias, Bettina Hamelin, Robin Z. Hayeems, Claire LeBlanc, Marinka Twilt, Gijs van Rooijen, Durhane Wong-Rieger, Rae S. M. Yeung, Deborah A. Marshall
Publikováno v:
PharmacoEconomics. 41:803-818
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4364ff50746d08a8e40655a4d2ce335e
https://doi.org/10.1007/s40273-023-01262-x
https://doi.org/10.1007/s40273-023-01262-x
Autor:
K Vanessa Carias, Mercedes Zoeteman, Abigail Seewald, Matthea R Sanderson, Jocelyn M Bischof, Rachel Wevrick
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0230874 (2020)
MAGEL2 encodes the L2 member of the MAGE (melanoma antigen) protein family. Protein truncating mutations in MAGEL2 cause Schaaf-Yang syndrome, and MAGEL2 is one of a small set of genes deleted in Prader-Willi syndrome. Excessive daytime sleepiness, n
Externí odkaz:
https://doaj.org/article/555d09d8a0f6486d9580eb32e8b7c5d7
Autor:
Matthea R. Sanderson, Jocelyn M. Bischof, Mercedes Zoeteman, Abigail Seewald, K. Vanessa Carias, Rachel Wevrick
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 4, p e0230874 (2020)
PLoS ONE, Vol 15, Iss 4, p e0230874 (2020)
MAGEL2 encodes the L2 member of the MAGE (melanoma antigen) protein family. Protein truncating mutations in MAGEL2 cause Schaaf-Yang syndrome, and MAGEL2 is one of a small set of genes deleted in Prader-Willi syndrome. Excessive daytime sleepiness, n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c25329a873753682557e3e4f5055e7
http://europepmc.org/articles/PMC7173924
http://europepmc.org/articles/PMC7173924
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