ProfileOfResearchers

TITLE: First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics Full Text
AUTHORS: Katherine A Rauen; Abeer Alsaegh; Shay Ben Shachar; Yemima Berman; Jaishri Blakeley; Isabel Cordeiro; Ype Elgersma; Gareth G Evans; Michael J Fisher; Ian M Frayling; Joshi George; Susan M Huson; Bronwyn Kerr; Uday Khire; Bruce Korf; Eric Legius; Ludwine Messiaen; Rick van Minkelen; Sheela Nampoothiri; Joanne Ngeow; Luis F Parada; Shubha Phadke; Ashok Pillai; Scott R Plotkin; Ratna Puri; Anup Raji; Vijaya Ramesh; Nancy Ratner; Suma P Shankar; Sheetal Sharda; Anant Tambe; Miikka Vikkula; Brigitte C Widemann; Pierre Wolkenstein; Meena Upadhyaya; ...More
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 6

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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

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