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Plos One|November 6, 2008
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysToshiyuki Fukada, Natacha Civic, Tatsuya Furuichi, et al.Revue Medicale Suisse|December 7, 2017
[Rare vascular diseases, building dedicated multidisciplinary specialized center]Caroline Krieger, David Baud, Judith Bouchardy, et al.Journal of Clinical Immunology|June 5, 2023
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE SyndromeTiphaine Arlabosse, Marie Materna, Orbicia Riccio, et al.American Journal of Medical Genetics. Part A|October 4, 2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genesOk-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, et al.American Journal of Medical Genetics. Part A|January 5, 2021
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disordersLorenzo D Botto, Marie Meeths, Belinda Campos-Xavier, et al.American Journal of Medical Genetics. Part A|September 11, 2010
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic featuresSheila Unger, Ekkehart Lausch, Antonio Rossi, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2025
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation frameworkRyan F Webb, Hannah McCurry, Amanda Girod, et al.Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.Pageof 24