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American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, et al.
American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.
Clinical Genetics|February 15, 2021
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 geneIsis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, et al.
The New England Journal of Medicine|June 30, 2016
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseasePelin O Simsek Kiper, Hiroaki Saito, Francesca Gori, et al.
American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.
Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.
American Journal of Human Genetics|May 21, 2013
FAM111A mutations result in hypoparathyroidism and impaired skeletal developmentSheila Unger, Maria W Górna, Antony Le Béchec, et al.
EMBO Molecular Medicine|July 11, 2014
Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteinsBum-Ho Bin, Shintaro Hojyo, Toshiaki Hosaka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissectionsJosephina A N Meester, Geert Vandeweyer, Isabel Pintelon, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
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