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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1947 - 1947
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, p. e0161347
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1886 - 1898
Transforming growth factor β‐activated kinase 1 (TAK1) mediates multiple biological processes through the nuclear factor κ‐light‐chain‐enhancer of activated B... 
collagen | TAK1‐TAB complex | haploinsufficiency | extracellular matrix | MAPK signaling pathways | Phenotypes | TAK1 protein | Pathogenesis | Transforming growth factor | Homeostasis | MAP kinase | mRNA | Kinases | Haploinsufficiency | Polymerase chain reaction | Signal transduction | Lymphocytes B | Protein kinase | Collagen | Fibroblasts | Extracellular matrix | Immunofluorescence
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 11/2016, Volume 4, Issue 11, pp. 1145 - 1158
Introduction: Ehlers-Danlos syndrome (EDS) groups together an increasing number of hereditary soft connective tissue disorders. Among the most common variants,... 
treatment | joint hypermobility | pain | Ehlers-Danlos syndrome | management | SMALL FIBER NEUROPATHY | MUSCULOSKELETAL COMPLAINTS | NATURAL-HISTORY | JOINT HYPERMOBILITY SYNDROME | CEREBROSPINAL-FLUID LEAKS | PHARMACOLOGY & PHARMACY | QUALITY-OF-LIFE | CHRONIC-FATIGUE-SYNDROME | CAROTID-CAVERNOUS FISTULA | HEREDITARY DISORDERS | CONNECTIVE-TISSUE
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2017, Volume 175, Issue 1, pp. 148 - 157
Journal Article
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2015, Volume 169, Issue 1, pp. 1 - 5
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 12/2015, Volume 169, Issue 4, pp. 289 - 292
Journal Article
Journal Article
American Journal of Medical Genetics Part c : Seminars in Medical Genetics, ISSN 1552-4868, 2017, Volume 175, Issue 1, pp. 8 - 26
Journal Article