Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Luis A, Umana"'
Autor:
Shino, Shimada, Bobby G, Ng, Amy L, White, Kim K, Nickander, Coleman, Turgeon, Kristen L, Liedtke, Christina T, Lam, Esperanza, Font-Montgomery, Charles M, Lourenco, Miao, He, Dawn S, Peck, Luis A, Umana, Crescenda L, Uhles, Devon, Haynes, Patricia G, Wheeler, Michael J, Bamshad, Deborah A, Nickerson, Tom, Cushing, Ryan, Gates, Natalia, Gomez-Ospina, Heather M, Byers, Fernanda B, Scalco, Noelia N, Martinez, Rani, Sachdev, Lacey, Smith, Annapurna, Poduri, Stephen, Malone, Rebekah V, Harris, Ingrid E, Scheffer, Sergio D, Rosenzweig, David R, Adams, William A, Gahl, May Christine V, Malicdan, Kimiyo M, Raymond, Hudson H, Freeze, Xiaohong, Zhang
Publikováno v:
Journal of medical genetics.
PurposeTo summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d43987ae7f70e65c7c9e2d98568529
https://pubmed.ncbi.nlm.nih.gov/35790351
https://pubmed.ncbi.nlm.nih.gov/35790351
