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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.
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.
Oncology Letters|December 15, 2018
Targeted next-generation sequencing of cancer-related genes in thyroid carcinoma: A single institution's experienceNobuyuki Bandoh, Toshiaki Akahane, Takashi Goto, et al.
Cancer Medicine|March 30, 2026
Molecular Characterization and Its Clinical Application of GNAS Variants in Intramuscular MyxomaMunehisa Kito, Shohei Shigeto, Mai Iwaya, et al.
Biological & Pharmaceutical Bulletin|March 1, 2022
Betulin Attenuates TGF-β1- and PGE2-Mediated Inhibition of NK Cell Activity to Suppress Tumor Progression and Metastasis in MiceMasaru Ogasawara, Shino Yamasaki-Yashiki, Masahiro Hamada, et al.
Frontiers in Genetics|September 15, 2023
Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening systemTomomi Yamaguchi, Kazuo Yamada, So Nagai, et al.
Biochimica Et Biophysica Acta. General Subjects|December 17, 2018
Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14Takuya Hirose, Naoki Takahashi, Prasarn Tangkawattana, et al.
[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology|May 11, 2018
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6]Toru Kawakami, Hideyuki Nakazawa, Fumihiro Kawakami, et al.
Genes|September 19, 2019
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing LossKenjiro Sugiyama, Hideaki Moteki, Shin-Ichiro Kitajiri, et al.
The Annals of Otology, Rhinology, and Laryngology|July 30, 2016
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic HybridizationHideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, et al.
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