Kosaki R - Search Results

1

Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high-performance liquid chromatography.

Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T, Kosaki K. Aramaki M, et al. Among authors: kosaki r, kosaki k. Genet Test. 2006 Winter;10(4):244-51. doi: 10.1089/gte.2006.10.244. Genet Test. 2006. PMID: 17253929

2

Isoform-specific imprinting of the human PEG1/MEST gene.

Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Am J Hum Genet. 2000 Jan;66(1):309-12. doi: 10.1086/302712. Am J Hum Genet. 2000. PMID: 10631159 Free PMC article. No abstract available.

3

Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.

Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Yoshihashi H, et al. Among authors: kosaki r, kosaki k. Am J Hum Genet. 2000 Aug;67(2):476-82. doi: 10.1086/302997. Epub 2000 Jun 12. Am J Hum Genet. 2000. PMID: 10856193 Free PMC article.

4

Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.

Kosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N. Kosaki K, et al. Among authors: kosaki r. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):111-9. doi: 10.1016/s0165-022x(00)00157-3. J Biochem Biophys Methods. 2001. PMID: 11179767

5

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.

Kosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Mol Psychiatry. 2001 Jan;6(1):87-91. doi: 10.1038/sj.mp.4000799. Mol Psychiatry. 2001. PMID: 11244491

6

Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.

Maeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K. Maeyama K, et al. Among authors: kosaki r, kosaki k. Teratology. 2001 Mar;63(3):119-26. doi: 10.1002/tera.1022. Teratology. 2001. PMID: 11283968

7

A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.

Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Clin Genet. 2001 Oct;60(4):314-5. doi: 10.1034/j.1399-0004.2001.600411.x. Clin Genet. 2001. PMID: 11683779 No abstract available.

8

Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis.

Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Hasegawa T, Takahashi T, Matsuo N, Kosaki K. Fujita H, et al. Among authors: kosaki r, kosaki k. Teratology. 2002 Jan;65(1):10-8. doi: 10.1002/tera.1093. Teratology. 2002. PMID: 11835227

9

Complete mutation analysis panel of the 39 human HOX genes.

Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Teratology. 2002 Feb;65(2):50-62. doi: 10.1002/tera.10009. Teratology. 2002. PMID: 11857506

10

A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.

Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. Kosaki K, et al. Among authors: kosaki r. Ophthalmic Genet. 2002 Mar;23(1):43-7. doi: 10.1076/opge.23.1.43.2202. Ophthalmic Genet. 2002. PMID: 11910558

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