Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Angela Teresa Abad-Perez"'
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:
Pavel Kolkhir, Polina Pyatilova, Tameem Ashry, Qingqing Jiao, Angela Teresa Abad-Perez, Sabine Altrichter, Carolina Elisa Vera Ayala, Martin K. Church, Jiajun He, Katharina Lohse, Martin Metz, Jörg Scheffel, Murat Türk, Stefan Frischbutter, Marcus Maurer
Publikováno v:
Journal of Allergy and Clinical Immunology. 149:1998-2009.e5
Background: Chronic prurigo (CPG) is characterized by intensive itch and interactions among nerves, neuropeptides, and mast cells (MCs). The role of some neuropeptides such as cortistatin (CST) and its receptor, Mas-related G protein–coupled recept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb3399121138d5f0f41df4231e86717
https://doi.org/10.1016/j.jaci.2022.02.021
https://doi.org/10.1016/j.jaci.2022.02.021
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
Autor:
Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel, Jonas Elsner, Angela Teresa Abad-Perez, Peter Hansen, Stefan Mundlos, Malte Spielmann, Denise Horn, Claus-Eric Ott, Martin Atta Mensah
BACKGROUND Collectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35687fedfdb4d81c957bf8d167b92245
https://doi.org/10.2196/preprints.19263
https://doi.org/10.2196/preprints.19263
Autor:
Jean Tori, Pantel, Nurulhuda, Hajjir, Magdalena, Danyel, Jonas, Elsner, Angela Teresa, Abad-Perez, Peter, Hansen, Stefan, Mundlos, Malte, Spielmann, Denise, Horn, Claus-Eric, Ott, Martin Atta, Mensah
Publikováno v:
Journal of Medical Internet Research (JMIR)
Journal of Medical Internet Research, Vol 22, Iss 10, p e19263 (2020)
Journal of Medical Internet Research
Journal of Medical Internet Research, Vol 22, Iss 10, p e19263 (2020)
Journal of Medical Internet Research
BackgroundCollectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic syndr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53c2accbb6d2749e2d029a9758fd2fd