ProfileOfResearchers

TITLE: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
AUTHORS: Rene G Feichtinger; Bettina E Mucha; Holger Hengel; Zakaria Orfi; Christine Makowski; Junio Dort; Guy D'Anjou; Nguyen, TTM; Rebecca Buchert; Hendrik Juenger; Peter Freisinger; Sarah Baumeister; Benedikt Schoser; Uwe Ahting; Reinhard Keimer; Cam Tu Emilie Nguyen; Paul Fabre; Julie Gauthier; Marguerite Miguet; Fatima Lopes; Afnan AlHakeem; Amal AlHashem; Brahim Tabarki; Krishna Kumar Kandaswamy; Peter Bauer; Peter Steinbacher; Holger Prokisch; Marc Sturm; Tim M Strom; Benjamin Ellezam; Johannes A Mayr; Ludger Schoels; Jacques L Michaud; Philippe M Campeau; Tobias B Haack; Nicolas A Dumont; ...More
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 11

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TITLE: Impact of age at onset and newborn screening on outcome in organic acidurias Full Text
AUTHORS: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Baric; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda C I Cortes I Saladelafont; Daniela Karall; Chris Muehlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Koelker;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 3

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