Showing results (151-160 of 234) with videos related to

Sort By:
Pageof 24
Nature Communications|January 23, 2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing dataMathieu Quinodoz, Virginie G Peter, Nicola Bedoni, et al.
Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
Scientific Reports|November 25, 2015
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasiaBeryl Royer-Bertrand, Silvia Castillo-Taucher, Rodrigo Moreno-Salinas, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeBrian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.
American Journal of Medical Genetics. Part A|November 27, 2016
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathiesKeren Machol, Mahim Jain, Mohammed Almannai, et al.
Genes|January 21, 2022
Clinical and Genetic Findings in a Series of Eight Families with ArthrogryposisMarzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
Nature Medicine|October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and humanShuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Pageof 24