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pro vyhledávání: '"Ana M. Brás-Goldberg"'
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Autor:
Gert Matthijs, Marja-Leena Väisänen, Jukka S. Moilanen, Johan L.K. Van Hove, Gunter Scharer, Kathryn E. Kronquist, Vincent Mahieu, Cécile Acquaviva, Magdalena Ugarte, Pilar Rodríguez-Pombo, Irene Bravo-Alonso, Geralyn Creadon-Swindell, Celia Pérez-Cerdá, Michael A. Swanson, Elisa Rahikkala, Christine Vianey-Saban, Curtis R. Coughlin, Elaine B. Spector, Ana M. Brás-Goldberg, Tim Hutchin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(9)
The original supplementary information included with this article contained several minor errors. Corrected Supplementary Information accompanies this corrigendum.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2b32c993e788ae20372a8d49e7f391
https://pubmed.ncbi.nlm.nih.gov/27362913
https://pubmed.ncbi.nlm.nih.gov/27362913
Autor:
Vincent Mahieu, Cécile Acquaviva, Irene Bravo-Alonso, Kathryn E. Kronquist, Gert Matthijs, Tim Hutchin, Gunter Scharer, Michael A. Swanson, Pilar Rodríguez-Pombo, Magdalena Ugarte, Geralyn Creadon-Swindell, Elaine B. Spector, Celia Pérez-Cerdá, Jukka S. Moilanen, Ana M. Brás-Goldberg, Curtis R. Coughlin, Elisa Rahikkala, Christine Vianey-Saban, Marja-Leena Väisänen, Johan L.K. Van Hove
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (1), pp.104--111. ⟨10.1038/gim.2016.74⟩
Genetics in Medicine, Nature Publishing Group, 2017, 19 (1), pp.104--111. ⟨10.1038/gim.2016.74⟩
International audience; Purpose: The study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). Methods: Genetic results, parental phase, ethnic origin, and gender data were collected from subjects sus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7940c39c36f9962689118ca5dfc5d469
https://pubmed.ncbi.nlm.nih.gov/29300369
https://pubmed.ncbi.nlm.nih.gov/29300369