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Molecular Biology Reports|November 12, 2024
Myokine BDNF highly expressed in Type I fibers inhibits the differentiation of myotubes into Type II fibersTeng Hu, Yasuro Furuichi, Yasuko Manabe, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
MBTPS2 mutation causes BRESEK/BRESHECK syndromeMisako Naiki, Seiji Mizuno, Kenichiro Yamada, et al.
American Journal of Medical Genetics. Part A|January 31, 2014
Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2Daisuke Fukushi, Kenichiro Yamada, Noriko Nomura, et al.
American Journal of Medical Genetics. Part A|January 18, 2006
Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndromeYoko Kondo, Seiji Mizuno, Kei Ohara, et al.
Human Mutation|June 3, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivationKimiko Katoh, Kaori Aiba, Daisuke Fukushi, et al.
American Journal of Medical Genetics. Part A|November 19, 2010
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardationKenichiro Yamada, Daisuke Fukushi, Takao Ono, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
R3HDM1 haploinsufficiency is associated with mild intellectual disabilityDaisuke Fukushi, Mie Inaba, Kimiko Katoh, et al.
BMC Medical Genetics|December 24, 2010
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutationsKenichiro Yamada, Kiyokuni Miura, Kenju Hara, et al.
Molecular Neurobiology|December 25, 2025
Transcript Imbalance from TENM4 Exon Skipping: Effects on Epilepsy and Genetic PleiotropyYasuyo Suzuki, Daniela Tiaki Uehara, Yasushi Enokido, et al.
European Journal of Medical Genetics|November 9, 2023
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndromeYasuyo Suzuki, Noriko Nomura, Kenichiro Yamada, et al.
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