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TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; Andre Megarbane; Heloisa G Santos; Miranda Splitt; Andrea Superti Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valerie Cormier Daire; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Long-term follow-up in Stuve-Wiedemann syndrome: A clinical report  Full Text
AUTHORS: Isabel Mendes Gaspar; Tiago Saldanha; Pedro Cabral; Manuel M Vilhena; Madalena Tuna; Cristina Costa; Nathalie Dagoneau; Valerie Cormier Daire; Raoul C M Hennekam;
PUBLISHED: 2008, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 146A, ISSUE: 13
INDEXED IN: Scopus WOS CrossRef