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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Ciliary disorder of the skeletonCeline Huber, Valerie Cormier-DaireEuropean Journal of Pediatrics|June 11, 2005
Severe, atypical form of dyschondrosteosis (report of two cases)Tadeusz Bieganski, Krzysztof Bik, Valerie Cormier-Daire, et al.Journal of Neuroengineering and Rehabilitation|September 28, 2015
Feasibility of cardiopulmonary exercise testing and training using a robotics-assisted tilt table in dependent-ambulatory stroke patientsJittima Saengsuwan, Celine Huber, Jonathan Schreiber, et al.American Journal of Medical Genetics. Part A|August 14, 2012
IMPAD1 mutations in two Catel-Manzke like patientsMathilde Nizon, Yasemin Alanay, Beyhan Tuysuz, et al.American Journal of Medical Genetics. Part A|October 27, 2019
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotypeBenjamin Dudoignon, Celine Huber, Caroline Michot, et al.Pediatric Blood & Cancer|October 10, 2013
Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesisSule Unal, Yasemin Alanay, Mualla Cetin, et al.Journal of Human Genetics|September 9, 2016
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot regionSara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, et al.Journal of Medical Genetics|August 4, 2009
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumDenise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, et al.Human Mutation|October 31, 2009
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levelsCeline Huber, Mélanie Fradin, Thomas Edouard, et al.American Journal of Human Genetics|September 22, 2005
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosisSara Benito-Sanz, N Simon Thomas, Céline Huber, et al.Pageof 2