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459 results

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Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency.
Endo A, Watanabe K, Ohye T, Suzuki K, Matsubara T, Shimizu N, Kurahashi H, Yoshikawa T, Katano H, Inoue N, Imai K, Takagi M, Morio T, Mizutani S. Endo A, et al. Among authors: kurahashi h. Clin Infect Dis. 2014 Aug 15;59(4):545-8. doi: 10.1093/cid/ciu323. Epub 2014 May 6. Clin Infect Dis. 2014. PMID: 24803376
A PDE3A mutation in familial hypertension and brachydactyly syndrome.
Boda H, Uchida H, Takaiso N, Ouchi Y, Fujita N, Kuno A, Hata T, Nagatani A, Funamoto Y, Miyata M, Yoshikawa T, Kurahashi H, Inagaki H. Boda H, et al. Among authors: kurahashi h. J Hum Genet. 2016 Aug;61(8):701-3. doi: 10.1038/jhg.2016.32. Epub 2016 Apr 7. J Hum Genet. 2016. PMID: 27053290
A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
Fu XJ, Morisada N, Hashimoto F, Taniguchi-Ikeda M, Hashimura Y, Ohtsubo H, Ninchoji T, Kaito H, Nozu K, Takahashi E, Nakanishi K, Kurahashi H, Iijima K. Fu XJ, et al. Among authors: kurahashi h. Hum Genome Var. 2014 Aug 7;1:14006. doi: 10.1038/hgv.2014.6. eCollection 2014. Hum Genome Var. 2014. PMID: 27081500 Free PMC article.
Prenatal genetic testing for familial severe congenital protein C deficiency.
Tairaku S, Taniguchi-Ikeda M, Okazaki Y, Noguchi Y, Nakamachi Y, Mori T, Kubokawa I, Hayakawa A, Shibata A, Emoto T, Kurahashi H, Toda T, Kawano S, Yamada H, Morioka I, Iijima K. Tairaku S, et al. Among authors: kurahashi h. Hum Genome Var. 2015 Jun 25;2:15017. doi: 10.1038/hgv.2015.17. eCollection 2015. Hum Genome Var. 2015. PMID: 27081530 Free PMC article.
Successful living donor liver transplantation for classical maple syrup urine disease.
Yasui T, Suzuki T, Hara F, Watanabe S, Uga N, Naoe A, Yoshikawa T, Ito T, Nakajima Y, Miura H, Sugioka A, Kato Y, Tokoro T, Tanahashi Y, Kasahara M, Fukuda A, Kurahashi H. Yasui T, et al. Among authors: kurahashi h. Pediatr Transplant. 2016 Aug;20(5):707-710. doi: 10.1111/petr.12738. Epub 2016 Jun 20. Pediatr Transplant. 2016. PMID: 27319399
459 results