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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.
American Journal of Medical Genetics. Part A|February 13, 2013
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndromeYoko Narumi, Byung-Joo Min, Kenji Shimizu, 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.
Discover Oncology|January 31, 2023
Hereditary diffuse gastric cancer in a Japanese family with CDH1 mutation three case reportsFutoshi Muranaka, Emiko Kise, Shigeo Tokumaru, et al.
Journal of Human Genetics|January 8, 2016
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangementsDaniela Tiaki Uehara, Shin Hayashi, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutationMasanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, 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.
Molecular Genetics and Metabolism Reports|June 16, 2023
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry diseaseKatsuya Nakamura, Saki Mukai, Yuka Takezawa, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndromeKenji Shimizu, Keiko Wakui, Tomoki Kosho, et al.
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