1
TÍTULO: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTORES: Marisa W Friederich; Sharita Timal; Christopher A Powell; Cristina Dallabona; Alina Kurolap; Sara Palacios Zambrano; Drago Bratkovic; Terry G J Derks; David Bick; Katelijne Bouman; Kathryn C Chatfield; Nadine Damouny Naoum; Megan K Dishop; Tzipora C Falik Zaccai; Fuad Fares; Ayalla Fedida; Ileana Ferrero; Renata C Gallagher; Rafael Garesse; Micol Gilberti; Cristina Gonzalez; Katherine Gowan; Clair Habib; Rebecca K Halligan; Limor Kalfon; Kaz Knight; Dirk Lefeber; Laura Mamblona; Hanna Mandel; Adi Mory; John Ottoson; Tamar Paperna; Ger J M Pruijn; Pedro F Rebelo Guiomar; Ann Saada; Bruno Sainz; Hayley Salvemini; Mirthe H Schoots; Jan A Smeitink; Maciej J Szukszto; Hendrik J ter Horst; Frans van den Brandt; Francjan J van Spronsen; Joris A Veltman; Eric Wartchow; Liesbeth T Wintjes; Yaniv Zohar; Miguel A Fernandez Moreno; Hagit N Baris; Claudia Donnini; Michal Minczuk; Richard J Rodenburg; Johan L K Van Hove; ...Mais
PUBLICAÇÃO: 2018, FONTE: NATURE COMMUNICATIONS, VOLUME: 9, NÚMERO: 1
INDEXADO EM: Scopus WOS
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TÍTULO: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTORES: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; Jaak Jaeken; Nathalie Guffon; David Cheillan; Lambertus P van den Heuvel; Yusuke Maeda; Olaf Kaiser; Ulrike Schara; Patrick Gerner; Marjolein A W van den Boogert; Adriaan G Holleboom; Marie Cecile Nassogne; Etienne Sokal; Jody Salomon; Geert van den Bogaart; Joost P H Drenth; Martijn A Huynen; Joris A Veltman; Ron A Wevers; Eva Morava; Gert Matthijs; Francois Foulquier; Thorsten Marquardt; Dirk J Lefeber; ...Mais
PUBLICAÇÃO: 2016, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, NÚMERO: 2
INDEXADO EM: Scopus WOS CrossRef