Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Gabriele Krueger"'
Autor:
Dorothee Neubauer, Martin Zenker, Marie Ange Delrue, Denny Schanze, Eva Holmberg, Eva Seemanova, Ina Schanze, Peter Meinecke, Anne Dieux-Coeslier, Tomonobu Hasegawa, Rainer Koenig, André Reis, Valérie Cormier-Daire, Adam Shaw, Raoul C.M. Hennekam, Marianne Volleth, Julie Vogt, Gabriele Krueger
Publikováno v:
Human mutation, 35(9), 1092-1100. Wiley-Liss Inc.
Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d93c2397e01d7d0e47cb24e5755fee
https://pure.amc.nl/en/publications/deletions-in-the-3-part-of-the-nfix-gene-including-a-recurrent-alumediated-deletion-of-exon-6-and-7-account-for-previously-unexplained-cases-of-marshallsmith-syndrome(fcc48ee9-75db-4024-975c-c7a60af55f3d).html
https://pure.amc.nl/en/publications/deletions-in-the-3-part-of-the-nfix-gene-including-a-recurrent-alumediated-deletion-of-exon-6-and-7-account-for-previously-unexplained-cases-of-marshallsmith-syndrome(fcc48ee9-75db-4024-975c-c7a60af55f3d).html
Autor:
Britta M Rhode, Joerg Schmidtke, Christine Zuehlke, Madeleine Maelzer, Gabriele Krueger, Kai Brakensiek, Manfred Stuhrmann, Katrin Hinderhofer, Ingolf Boehm, Loukas Argyriou, Ingrid Bauer
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83679364d5e0d1eb35828fbf6c4c2ec2
https://europepmc.org/articles/PMC2986213/
https://europepmc.org/articles/PMC2986213/