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Idcases|December 7, 2016
The first case of recurrent ultra late onset group B streptococcal sepsis in a 3-year-old childAi Hosoda, Ryohei Gatayama, Shiori Moriyama, et al.
Rinsho Shinkeigaku = Clinical Neurology|November 26, 2014
[Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report]Takeshi Yoshimoto, Takahiro Himeno, Shinichi Takeshima, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter)Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, et al.
American Journal of Medical Genetics. Part A|June 10, 2017
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pterDaisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, et al.
Nucleosides, Nucleotides & Nucleic Acids|October 19, 2016
Novel mutation in HPRT1 causing a splicing error with multiple variationsShimpei Baba, Takashi Saito, Yasukazu Yamada, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 2, 2004
Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndromeMakiko Mizunuma, Yasukazu Yamada, Kenichiro Yamada, et al.
The Tokai Journal of Experimental and Clinical Medicine|February 15, 2011
C1q nephropathy in a 2-year-old boy presenting with steroid resistant nephrotic syndromeFumio Niimura, Akinobu Kamei, Takuya Tamame, et al.
Gene|February 26, 2018
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocationDaisuke Fukushi, Kenichiro Yamada, Kaoru Suzuki, et al.
Oncotarget|May 20, 2017
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)Yasuyo Suzuki, Yasushi Enokido, Kenichiro Yamada, et al.
Scientific Reports|November 21, 2013
Lipidomics analysis revealed the phospholipid compositional changes in muscle by chronic exercise and high-fat dietNaoko Goto-Inoue, Kenichiro Yamada, Akiko Inagaki, et al.
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