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Glycobiology|May 15, 2026
Comprehensive analysis of the skeletal phenotype in Chst14 -/- mice: implications for dermatan sulfate in bone structure and strengthYuki Takahashi, Takahiro Yoshizawa, Shuji Mizumoto, et al.American Journal of Medical Genetics. Part A|November 26, 2010
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literatureYoko Narumi, Tomoki Kosho, Goro Tsuruta, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observationSoichi Shibuya, Yuichiro Miyake, Shigeru Takamizawa, et al.Frontiers in Cell and Developmental Biology|October 28, 2021
Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model InvestigationYuko Nitahara-Kasahara, Guillermo Posadas-Herrera, Shuji Mizumoto, et al.American Journal of Medical Genetics. Part A|October 16, 2007
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changesTomoki Kosho, Jun Takahashi, Takashige Momose, et al.Internal Medicine (Tokyo, Japan)|August 9, 2023
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 VariantGaku Okumura, Katsuya Nakamura, Rie Seyama, et al.International Heart Journal|August 31, 2018
Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation SequencingNorimichi Koitabashi, Tomomi Yamaguchi, Daisuke Fukui, et al.Genes|February 25, 2023
Collagen Network Formation in In Vitro Models of Musculocontractural Ehlers-Danlos SyndromeAyana Hashimoto, Takuya Hirose, Kohei Hashimoto, et al.American Journal of Medical Genetics. Part A|April 4, 2019
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature reviewTomomi Yamaguchi, Kyoko Takano, Yuji Inaba, et al.Journal of Human Genetics|May 25, 2021
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2Kaori Hara-Isono, Keiko Matsubara, Riku Hamada, et al.Pageof 17