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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
obophenotype/human-phenotype-ontology: 2026-06-08 Release2026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Peter Robinson, Nicole Vasilevsky, Sebastian Köhler, Nicolas Matentzoglu, Harshad, Chris J Mungall, +19 more
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Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Luisa Marsili, Eline Overwater, Nadine Hanna, Geneviève Baujat, Marieke J.H. Baars, Cathérine Boileau, +19 more
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, +75 more
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Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers–Danlos syndromes2022 European Journal of Neurology article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Denver Igharo, Joana C. Thiel, Roman Rolke, Merve Akkaya, Joachim Weis, István Katona, +2 more
31citations -
monarch-initiative/mondo: v2026-02-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
0citations
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