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American Journal of Medical Genetics. Part A|September 9, 2018
Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14)Masashi Uehara, Tomoki Kosho, Noriaki Yamamoto, et al.Frontiers in Genetics|May 22, 2023
Case report: further delineation of AEBP1-related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literatureTomomi Yamaguchi, Shujiro Hayashi, So Nagai, et al.JBJS Case Connector|April 12, 2018
Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case ReportDaiki Kumaki, Yukio Nakamura, Noriko Sakai, et al.Journal of Human Genetics|May 26, 2026
Gastrointestinal involvement in Ehlers-Danlos syndrome classical-like type 2 associated with a novel AEBP1 splice-site variantHikaru Nakahara, Tomomi Yamaguchi, Hiroaki Niitsu, et al.Human Mutation|July 17, 2022
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patientMari Minatogawa, Takuya Hirose, Shuji Mizumoto, et al.Journal of Clinical Medicine|November 28, 2018
Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case SeriesTsukasa Kobayashi, Yukio Nakamura, Takako Suzuki, et al.Asian Spine Journal|October 30, 2016
Challenges of Transarticular Screw Fixation in Young Children: Report of Surgical Treatment of a 5-Year-Old Patient's Unstable Os-OdontoideumJun Takahashi, Hiroki Hirabayashi, Hiroyuki Hashidate, et al.Molecular Genetics and Metabolism Reports|September 28, 2020
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trialsHitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, et al.Journal of Human Genetics|January 24, 2022
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicingTakuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, et al.Frontiers in Genetics|September 1, 2023
Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopySatoko Ishikawa, Shujiro Hayashi, Toshimi Sairenchi, et al.Pageof 17