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American Journal of Medical Genetics. Part A|May 13, 2017
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeEmma M Wade, Zandra A Jenkins, Philip B Daniel, et al.Nature Genetics|September 6, 2005
Identification of mutations in CUL7 in 3-M syndromeCéline Huber, Dora Dias-Santagata, Anna Glaser, et al.JAMA Ophthalmology|December 4, 2025
Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine TransportMukhtar Ullah, Atta Ur Rehman, Madhur Shetty, et al.Neurogenetics|August 27, 2017
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, et al.Plos Genetics|May 3, 2011
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndromeMargot E Bowen, Eric D Boyden, Ingrid A Holm, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.Nature|February 11, 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulatorLila Allou, Sara Balzano, Andreas Magg, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.Pageof 24