Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rudolf Walther van Olden"'
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:
Rimma Velikanova, Simon van der Schans, Matthias Bischof, Rudolf Walther van Olden, Maarten Postma, Cornelis Boersma
Publikováno v:
Value in Health, 25(10), 1696-1704. ELSEVIER SCIENCE INC
Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age. Early detection and treatment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb7834be391e050c34f489cec63623e
https://doi.org/10.1016/j.jval.2022.06.010
https://doi.org/10.1016/j.jval.2022.06.010