Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Joern Schenk"'
Autor:
Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
Publikováno v:
PLoS ONE, Vol 18, Iss 11, p e0293503 (2023)
Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research pr
Externí odkaz:
https://doaj.org/article/b1398ce8c27f41afbbe124544bb3d5b6
Autor:
Ricardo Reisin, Christina Anagnostopoulou, Joern Schenk, Michael West, Uma Ramaswami, Michael Beck, Dau-Ming Niu, Guillem Pintos-Morell, Roberto Giugliani, Derralynn Hughes, Kathy Nicholls, Dalia Jazukeviciene, Christoph Kampmann, Jaco Botha
Publikováno v:
Molecular Genetics and Metabolism. 132:S19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a0b11a0d18076617d4dc84d26d0ae57
https://doi.org/10.1016/j.ymgme.2020.12.024
https://doi.org/10.1016/j.ymgme.2020.12.024
Autor:
Koonal Shah, Derralynn Hughes, Andrew Lenny, Deborah Elstein, Noga Gadir, Joern Schenk, Donna Fountain, Rachael Miller, Rohini Sen, Louise Longworth
Publikováno v:
Molecular Genetics and Metabolism. 132:S37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d514cea5a1e6bd7d2a97a805cebe268e
https://doi.org/10.1016/j.ymgme.2020.12.073
https://doi.org/10.1016/j.ymgme.2020.12.073