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Clinical and Experimental Rheumatology|May 19, 2022
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reportsMarlies Colman, Marco Castori, Lucia Micale, et al.American Journal of Human Genetics|September 15, 2015
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaSofie Symoens, Aileen M Barnes, Charlotte Gistelinck, et al.JCI Insight|August 26, 2025
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndromeRoméo Milan Diana, Benjamin Jolivet, Jean-Baptiste Vincourt, et al.Human Molecular Genetics|June 23, 2018
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndromeTim Van Damme, Xiaomeng Pang, Brecht Guillemyn, et al.Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
Loss-of-function of the Zinc Finger Homeobox 4 (<i>ZFHX4</i>) gene underlies a neurodevelopmental disorderPérez Baca María Del Rocío, María Palomares Bralo, Michiel Vanhooydonck, et al.American Journal of Human Genetics|May 14, 2025
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorderMaría Del Rocío Pérez Baca, María Palomares-Bralo, Michiel Vanhooydonck, et al.Science Immunology|December 1, 2019
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-βJuan Li, Marco Ritelli, Cindy S Ma, et al.Journal of Medical Genetics|November 24, 2021
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, et al.American Journal of Human Genetics|January 10, 2017
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis LaxaTim Van Damme, Thatjana Gardeitchik, Miski Mohamed, et al.Pageof 6