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1,207 results
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Inverted insertion of chromosome 7q and ectrodactyly.
Naritomi K, Izumikawa Y, Tohma T, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Am J Med Genet. 1993 Jun 15;46(5):492-3. doi: 10.1002/ajmg.1320460505. Am J Med Genet. 1993. PMID: 8322806
Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.
Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, Kimura M, Imamura S, Furutani Y, Joh-o K, et al. Arai S, et al. Among authors: hirayama k. Am J Med Genet. 1995 Sep 11;58(3):267-76. doi: 10.1002/ajmg.1320580314. Am J Med Genet. 1995. PMID: 8533830
Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.
Ohdo S, Hirayama K, Terawaki T. Ohdo S, et al. Among authors: hirayama k. J Med Genet. 1983 Feb;20(1):52-7. doi: 10.1136/jmg.20.1.52. J Med Genet. 1983. PMID: 6302256 Free PMC article.
16q21 is critical for 16q deletion syndrome.
Naritomi K, Shiroma N, Izumikawa Y, Sameshima K, Ohdo S, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Clin Genet. 1988 May;33(5):372-5. doi: 10.1111/j.1399-0004.1988.tb03464.x. Clin Genet. 1988. PMID: 3378367
Delineation of the da-Silva syndrome.
Naritomi K, Tohma T, Goya Y, Shiroma N, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Am J Med Genet. 1994 Feb 1;49(3):313-6. doi: 10.1002/ajmg.1320490314. Am J Med Genet. 1994. PMID: 8209892 Review.
The Costello syndrome: a boy with thick mitral valves and arrhythmias.
Izumikawa Y, Naritomi K, Tohma T, Shiroma N, Hirayama K. Izumikawa Y, et al. Among authors: hirayama k. Jpn J Hum Genet. 1993 Sep;38(3):329-34. doi: 10.1007/BF01874143. Jpn J Hum Genet. 1993. PMID: 7505126 Review.
Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.
Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Hum Genet. 1988 Oct;80(2):201-2. doi: 10.1007/BF00702873. Hum Genet. 1988. PMID: 3169748
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.
Naritomi K, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Hum Genet. 1989 May;82(2):199-201. doi: 10.1007/BF00284059. Hum Genet. 1989. PMID: 2722199
Trisomy 9q3 syndrome: a case report and review of the literature.
Naritomi K, Izumikawa Y, Goya Y, Gushiken M, Shiroma N, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Clin Genet. 1989 Apr;35(4):293-8. doi: 10.1111/j.1399-0004.1989.tb02947.x. Clin Genet. 1989. PMID: 2653675 Review.
Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.
Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, Orii T, Hirayama K. Naritomi K, et al. Among authors: hirayama k. Hum Genet. 1989 Dec;84(1):79-80. doi: 10.1007/BF00210677. Hum Genet. 1989. PMID: 2606480
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