Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sunnie Yan Wai Wong"'
Autor:
Deniz Simsek, Erika Brunet, Sunnie Yan-Wai Wong, Sachin Katyal, Yankun Gao, Peter J McKinnon, Jacqueline Lou, Lei Zhang, James Li, Edward J Rebar, Philip D Gregory, Michael C Holmes, Maria Jasin
Publikováno v:
PLoS Genetics, Vol 7, Iss 6, p e1002080 (2011)
Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instab
Externí odkaz:
https://doaj.org/article/4396a48b6f3a49508178da39b80ec8e7
Autor:
Miao He, Jozef Hertecant, Jolanta Sykut-Cegielska, Nurulamin Abu Bakar, Sunnie Yan Wai Wong, Francis Bowling, David Nguyen, Stefanie Perez, Tim L. Emmerzaal, Katja S. Brocke Holmefjord, Jaak Jaeken, Kea Crivelly, Gernot Poschet, Dieter Koch, Amanda M. Ackermann, Eva Morava, François Foulquier, Dirk Lefeber, Hana Hansikova, Nicole Peeters, Marit Mork, K. Michael Gibson, Kimiyo Raymond, Therese Gadomski, Graeme Preston, Christian Thiel, Monique van Scherpenzeel, Tomas Honzik, Tamas Kozicz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235
Contains fulltext : 181642.pdf (Publisher’s version ) (Closed access) PurposePhosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving oral D-galactose (D-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0572b9eeab1d0f7388ff8570b693790e
http://europepmc.org/articles/PMC5675745
http://europepmc.org/articles/PMC5675745
Autor:
Katja S. Brocke Holmefjord, Tomas Honzik, Jaak Jaeken, Lesa J. Beamer, Daisy Rymen, Tamas Kozicz, Dieter Koch, Francis Bowling, Jolanta Sykut-Cegielska, Marit Mork, Thomas Marquardt, Moeen Al-Sayed, Therese Gadomski, Sunnie Yan-Wai Wong, Saskia B. Wortmann, Avraham Zeharia, Dirk Lefeber, Amanda M. Ackermann, Eva Morava, Donald F. Conrad, Miski Mohamed, Charles A. Stanley
Publikováno v:
Journal of Pediatrics, 175, pp. 130-136.e8
Journal of Pediatrics, 175, 130-136.e8
Journal of Pediatrics, 175, 130-136.e8
Contains fulltext : 167712.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To define phenotypic groups and identify predictors of disease severity in patients with phosphoglucomutase-1 deficiency (PGM1-CDG). STUDY DESIGN: We evaluated 27 pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae842651bfeea383a15847741cb79cd6
https://hdl.handle.net/2066/167712
https://hdl.handle.net/2066/167712
Autor:
Sachin Katyal, Maria Jasin, Yankun Gao, Erika Brunet, Jacqueline F. Lou, James Li, Michael C. Holmes, Edward J. Rebar, Lei Zhang, Deniz Simsek, Peter J. McKinnon, Sunnie Yan-Wai Wong, Philip D. Gregory
Publikováno v:
PLoS Genetics
PLoS Genetics, 2011, 7 (6), pp.e1002080. ⟨10.1371/journal.pgen.1002080⟩
PLoS Genetics, Vol 7, Iss 6, p e1002080 (2011)
PLoS Genetics, 2011, 7 (6), pp.e1002080. ⟨10.1371/journal.pgen.1002080⟩
PLoS Genetics, Vol 7, Iss 6, p e1002080 (2011)
Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cc5bb8736c2333eb346dc8643b69d38
https://pubmed.ncbi.nlm.nih.gov/21655080
https://pubmed.ncbi.nlm.nih.gov/21655080
Autor:
Simsek, Deniz, Brunet, Erika, Sunnie Yan-Wai Wong, Katyal, Sachin, Yankun Gao, McKinnon, Peter J., Lou, Jacqueline, Lei Zhang, Li, James, Rebar, Edward J., Gregory, Philip D., Holmes, Michael C., Jasin, Maria
Publikováno v:
PLoS Genetics; Jun2011, Vol. 7 Issue 6, Special section p1-11, 11p