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TITLE: A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise
AUTHORS: Mathias, Susan D.; Hoover Fong, Julie; Savarirayan, Ravi; Crews, Chandler; Alves, Ines; Noval, Susan; Haider, Amer; Cho, Terry; Lee, Anne; Colwell, Hilary H.; Muslimova, Elena;
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
INDEXED IN: WOS
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TITLE: Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome  Full Text
AUTHORS: Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos Xavier; Luisa Bonafe; Andrea Superti Furga; Shiro Ikegawa; Valerie Cormier Daire; Judith V Bovee; Twinkal C Pansuriya; Sergio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman; ...More
PUBLISHED: 2011, SOURCE: PLOS GENETICS, VOLUME: 7, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect  Full Text
AUTHORS: Bram Perdu; Fenna de Freitas; Suzanne G M Frints; Meyke Schouten; Connie Schrander Stumpel; Mafalda Barbosa; Jorge Pinto Basto; Margarida Reis Lima; Marie Christine de Vernejoul; Kristin Becker; Marie Louise Freckmann; Kathlijn Keymolen; Eric Haan; Ravi Savarirayan; Rainer Koenig; Bernhard Zabel; Filip M Vanhoenacker; Wim Van Hul;
PUBLISHED: 2010, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
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TITLE: Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease  Full Text
AUTHORS: Ana Campos-Xavier; Jorge M Saraiva; Ravi Savarirayan; Alain Verloes; Josué Feingold; Laurence Faivre; Arnold Munnich; Martine Le Merrer; Valérie Cormier-Daire;
PUBLISHED: 2001, SOURCE: Hum Genet - Human Genetics, VOLUME: 109, ISSUE: 6
INDEXED IN: CrossRef