Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
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Public Library of Science (PLoS)
2023-01-01
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Series: | PLoS ONE |
Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/?tool=EBI |
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author | 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 |
author_facet | 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 |
author_sort | Nicolas Garnier |
collection | DOAJ |
first_indexed | 2024-03-09T18:54:40Z |
format | Article |
id | doaj.art-457a1e2e14b949feb19751ce2bb255fc |
institution | Directory Open Access Journal |
issn | 1932-6203 |
language | English |
last_indexed | 2024-03-09T18:54:40Z |
publishDate | 2023-01-01 |
publisher | Public Library of Science (PLoS) |
record_format | Article |
series | PLoS ONE |
spelling | doaj.art-457a1e2e14b949feb19751ce2bb255fc2023-11-24T05:31:37ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-011811Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in EuropeNicolas GarnierJoanne BerghoutAldona ZygmuntDeependra SinghKui A. HuangWaltraud KantzCarl Rudolf BlankartSandra GillnerJiawei ZhaoRichard RoettgerChristina SaierJan KirschnerJoern SchenkLeon AtkinsNuala RyanKaja ZarakowskaJana ZschüntzschMichela ZuccoloMatthias MüllenbornYuen-Sum ManLiz GoodmanMarie TradAnne Sophie ChalandonStefaan SansenMaria Martinez-FresnoShirlene BadgerRudolf Walther van OldenRobert RothmannPatrick LehnerChristof TschohlLudovic BaillonGulcin GumusEdith GrossRumen StefanovGeorgi IskrovRalitsa RaychevaKostadin KostadinovElena MitovaMoshe EinhornYaron EinhornJosef SchepersMiriam HübnerFrauke AlvesRowan IskandarRudolf MayerAlessandra RenieriAneta PiperkovaIvo GutSergi BeltranMads Emil MatthiesenMarion PoetzMats HanssonRegina TrollmannEmanuele AgoliniSilvia OttombrinoAntonio NovelliEnrico BertiniRita SelvaticiMarianna FarnèFernanda FortunatoAlessandra Ferlinihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/?tool=EBI |
spellingShingle | 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 Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe PLoS ONE |
title | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_full | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_fullStr | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_full_unstemmed | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_short | Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe |
title_sort | genetic newborn screening and digital technologies a project protocol based on a dual approach to shorten the rare diseases diagnostic path in europe |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664952/?tool=EBI |
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