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Nihon Rinsho Men'Eki Gakkai Kaishi = Japanese Journal of Clinical Immunology|November 26, 2003
[A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease]Tomoyuki Kabuki, Toshinao Kawai, Yoshiaki Kin, et al.Plos One|May 6, 2025
Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contractionFumiko Ono, Yuki Takahashi, Shin Shimada, et al.American Journal of Medical Genetics. Part A|August 28, 2016
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic featuresEriko Nishi, Koji Masuda, Michiko Arakawa, et al.Surgery Today|May 3, 2011
Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a caseHiroshi Omori, Atsushi Hatamochi, Makoto Koike, et al.American Journal of Medical Genetics. Part A|October 18, 2008
Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36Shoji Saito, Rie Kawamura, Tomoki Kosho, et al.Journal of Human Genetics|June 7, 2013
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patientsHirohisa Nitta, Motoko Unoki, Kenji Ichiyanagi, et al.Spine|November 27, 2019
Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis SyndromeMasashi Uehara, Tomoki Kosho, Kyoko Takano, et al.Human Genome Variation|May 26, 2018
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qterHirokazu Morokawa, Motoko Kamiya, Keiko Wakui, et al.JIMD Reports|November 6, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese womanHiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|April 25, 2020
Posterior spinal fusion for severe kyphoscoliosis in a Loeys-Dietz syndrome patient with a large syringomyeliaMasashi Uehara, Kiyoshi Ito, Tomoki Kosho, et al.Pageof 17