Dirk Lefeber
AuthID: R-00G-JKJ
1
TITLE: Integration of 3D Printed Flexible Pressure Sensors into Physical Interfaces for Wearable Robots Full Text
AUTHORS: Langlois, K; Roels, E; Van de Velde, G; Espadinha, C; Van Vlerken, C; Verstraten, T; Vanderborght, B; Lefeber, D;
PUBLISHED: 2021, SOURCE: SENSORS, VOLUME: 21, ISSUE: 6
AUTHORS: Langlois, K; Roels, E; Van de Velde, G; Espadinha, C; Van Vlerken, C; Verstraten, T; Vanderborght, B; Lefeber, D;
PUBLISHED: 2021, SOURCE: SENSORS, VOLUME: 21, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients Full Text
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
INDEXED IN: Scopus WOS
3
TITLE: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTHORS: 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; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
AUTHORS: 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; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
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TITLE: Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa Full Text
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
AUTHORS: Thatjana Gardeitchik; Miski Mohamed; Bjoern Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki Joong Kim; Bing C Lim; Johannes Haeberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leao; Riikka Keski Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; ...More
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 7
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TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
INDEXED IN: Scopus CrossRef