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Molecular Genetics and Metabolism Reports|November 30, 2016
A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeHiroko Shimbo, Mariko Takagi, Mitsuko Okuda, et al.Brain & Development|March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutationsJunpei Tanigawa, Kaori Kaneko, Masakazu Honda, 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.Thyroid : Official Journal of the American Thyroid Association|May 29, 2021
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 DeficiencyHideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, et al.Brain & Development|December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathyKyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.Brain & Development|September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.Spine|March 25, 2017
Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case ReportHiroki Oba, Jun Takahashi, Kyoko Takano, et al.Cold Spring Harbor Molecular Case Studies|August 25, 2019
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literatureAritoshi Iida, Kyoko Takano, Eri Takeshita, et al.Seizure|April 21, 2015
Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsyNorimichi Higurashi, Yukitoshi Takahashi, Ayako Kashimada, et al.Human Molecular Genetics|July 21, 2012
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activityKyoko Takano, Dan Liu, Patrick Tarpey, et al.Pageof 5