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Patient preferences in genetic newborn screening for rare diseases: study protocol

Introduction Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the...

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Principais autores: Antonio Novelli, Alessandra Ferlini, Ferdinand Knieling, Brett Hauber, Jorien Veldwijk, Mats Hansson, Janbernd Kirschner, Åsa Grauman, Sylvia MARTIN, Emanuele Angolini, Jennifer Audi, Dr. Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Edith Gross, Gergana Kyosovksa, Silvia Ottombrino, Roman Raming, Stefaan Sansen, Christina Saier
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2024-04-01
coleção:BMJ Open
Acesso em linha:https://bmjopen.bmj.com/content/14/4/e081835.full
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