Machteld M. Oud


AuthID: R-00F-WJQ

Publicações a aguardarem confirmação

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; Kai Lehmberg; Tim Strom; Hartmut Engels; Hywel J Williams; Phil Beales; Ronald Roepmand; Patricia Dias; Han G Brunner; Jan Maarten Cobben; Christine Hall; Taila Hartley; Polona Le Quesne Stabej; Roberto Mendoza Londono; Graham G Davies; Sergio B de Sousa; Davor Lesse; Heleen H Arts; Taco W Kuijpers; ...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; Christine Bole Feysot; Patrick Nitschke; Mohammed Zahrate; Philip Beales; Heleen H Arts; Arnold Munnich; Josseline Kaplan; Corinne Antignac; Valerie Cormier Daire; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 81

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