Machteld M. Oud
AuthID: R-00F-WJQ
1
TITLE: Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
AUTHORS: Machteld M Oud; Paul Tuijnenburg; Maja Hempel; Naomi van Vlies; Zemin M Ren; Sacha Ferdinandusse; Machiel H Jansen; Rene Santer; Jessika Johannsen; Chiara Bacchelli; MarieIle Alders; Rui Li; Rosalind Davies; Lucie Dupuis; Catherine M Cale; Ronald J A Wanders; Steven T Pals; Louise Ocaka; Chela James; Ingo Mueller; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 100, ISSUE: 2
AUTHORS: Machteld M Oud; Paul Tuijnenburg; Maja Hempel; Naomi van Vlies; Zemin M Ren; Sacha Ferdinandusse; Machiel H Jansen; Rene Santer; Jessika Johannsen; Chiara Bacchelli; MarieIle Alders; Rui Li; Rosalind Davies; Lucie Dupuis; Catherine M Cale; Ronald J A Wanders; Steven T Pals; Louise Ocaka; Chela James; Ingo Mueller; ...More
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 100, ISSUE: 2
INDEXED IN: WOS
2
TITLE: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTHORS: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
AUTHORS: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5