Kosaki K - Search Results

1

Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. Kosaki K, et al. Am J Med Genet A. 2004 Jun 15;127A(3):310-2. doi: 10.1002/ajmg.a.30022. Am J Med Genet A. 2004. PMID: 15150786

2

Zimmer phocomelia: delineation by principal coordinate analysis.

Kosaki K, Jones MC, Stayboldt C. Kosaki K, et al. Am J Med Genet. 1996 Dec 2;66(1):55-9. doi: 10.1002/(SICI)1096-8628(19961202)66:1<55::AID-AJMG12>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8957512

3

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M. Kelley RL, et al. Among authors: kosaki k. Am J Med Genet. 1996 Dec 30;66(4):478-84. doi: 10.1002/(SICI)1096-8628(19961230)66:4<478::AID-AJMG22>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8989473

4

Genitourinary anomaly in congenital varicella syndrome: case report and review.

Fujita H, Yoshii A, Maeda J, Kosaki K, Shishido S, Nakai H, Awazu M. Fujita H, et al. Among authors: kosaki k. Pediatr Nephrol. 2004 May;19(5):554-7. doi: 10.1007/s00467-004-1420-5. Epub 2004 Mar 10. Pediatr Nephrol. 2004. PMID: 15015072

5

Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality.

Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T. Kosaki K, et al. Among authors: kosaki r. Am J Med Genet A. 2004 Sep 1;129A(3):308-11. doi: 10.1002/ajmg.a.30177. Am J Med Genet A. 2004. PMID: 15326634

6

Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

Kosaki R, Higuchi M, Mitsui N, Matsushima K, Ohashi H, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Congenit Anom (Kyoto). 2005 Mar;45(1):35-8. doi: 10.1111/j.1741-4520.2005.00059.x. Congenit Anom (Kyoto). 2005. PMID: 15737130

7

Molecular pathology of Shprintzen-Goldberg syndrome.

Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T. Kosaki K, et al. Among authors: kosaki r. Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. doi: 10.1002/ajmg.a.31006. Am J Med Genet A. 2006. PMID: 16333834 No abstract available.

8

Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF.

Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, Kosaki K. Izumi K, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2006 Feb 15;140(4):398-401. doi: 10.1002/ajmg.a.31061. Am J Med Genet A. 2006. PMID: 16419134 No abstract available.

9

Upper airway obstruction in neonates and infants with CHARGE syndrome.

Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Naito Y, et al. Among authors: kosaki k. Am J Med Genet A. 2007 Aug 15;143A(16):1815-20. doi: 10.1002/ajmg.a.31851. Am J Med Genet A. 2007. PMID: 17630667

10

Case report: Adult phenotype of Mulvihill-Smith syndrome.

Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Yagihashi T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2009 Mar;149A(3):496-500. doi: 10.1002/ajmg.a.32551. Am J Med Genet A. 2009. PMID: 19213035

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