Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Henrike Lisa Sczakiel"'
Autor:
Julia Körholz, Anastasia Gabrielyan, Henrike Lisa Sczakiel, Livia Schulze, Manuela Rejzek, Martin W Laass, Nicolai Leuchten, Oliver Tiebel, Diana Aust, Karsten Conrad, Nadja Röber, Eva-Maria Jacobsen, Nadja Ehmke, Reinhard Berner, Nadja Lucas, Minae A Lee-Kirsch, Ralf Wiedemuth, Joachim Roesler, Axel Roers, Timm Amendt, Catharina Schuetz
Publikováno v:
Rheumatology (Oxford, England).
Objectives Inborn errors of immunity manifest with susceptibility to infection but may also present with immune dysregulation only. According to the European Society for Immunodeficiencies Registry about 50% of inborn errors of immunity are classifie
Autor:
Denise Horn, Wiebke Hülsemann, Sarina Schwartzmann, Malte Spielmann, Manuel Holtgrewe, Stefan Mundlos, Henrike Lisa Sczakiel, Jonas Elsner, Martin A. Mensah, Angela Teresa Abad-Perez
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13229ab3c560d38c74aa10fcf88497d0
https://doi.org/10.1111/cge.14059/v2/response1
https://doi.org/10.1111/cge.14059/v2/response1
Autor:
Jonas Elsner, Angela Teresa Abad-Perez, Manuel Holtgrewe, Henrike Lisa Sczakiel, Martin A. Mensah, Denise Horn, Sarina Schwartzmann, Malte Spielmann, Stefan Mundlos, Wiebke Hülsemann
Loss of function variants of GLI3 are associated with a variety of forms of polysyndactyly: Pallister-Hall syndrome (PHS), Greig-Cephalopolysyndactyly syndrome (GCPS), and isolated polysyndactyly (IPD). Variants affecting the N-terminal and C-termina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd389894417f63f0927798ef3d5e53f5