Kosaki K - Search Results

1

Takenouchi T, Uehara T, Kosaki K, Mizuno S. Takenouchi T, et al. Among authors: kosaki k. Am J Med Genet A. 2018 Mar;176(3):712-714. doi: 10.1002/ajmg.a.38616. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383847

2

Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns.

Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Matsuo M, et al. Among authors: kosaki k. Am J Med Genet. 2000 Apr 10;91(4):267-72. Am J Med Genet. 2000. PMID: 10766981 Review.

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

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K. Udaka T, et al. Among authors: kosaki r, kosaki k. Congenit Anom (Kyoto). 2005 Dec;45(4):125-31. doi: 10.1111/j.1741-4520.2005.00081.x. Congenit Anom (Kyoto). 2005. PMID: 16359492

5

An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome.

Udaka T, Okamoto N, Aramaki M, Torii C, Kosaki R, Hosokai N, Hayakawa T, Takahata N, Takahashi T, Kosaki K. Udaka T, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2007 Apr 1;143A(7):721-6. doi: 10.1002/ajmg.a.31441. Am J Med Genet A. 2007. PMID: 17334995

6

Monozygotic twins of Smith-Magenis syndrome.

Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2007 Apr 1;143A(7):768-9. doi: 10.1002/ajmg.a.31647. Am J Med Genet A. 2007. PMID: 17345621 No abstract available.

7

Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.

Kosaki R, Fujimaru R, Samejima H, Yamada H, Izumi K, Iijima K, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2007 May 15;143A(10):1087-90. doi: 10.1002/ajmg.a.31700. Am J Med Genet A. 2007. PMID: 17431915

8

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

9

Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype.

Izumi K, Yamashita Y, Aramaki M, Kosaki R, Hosokai N, Takahashi T, Kosaki K. Izumi K, et al. Among authors: kosaki r, kosaki k. Am J Med Genet A. 2008 Aug 1;146A(15):1967-71. doi: 10.1002/ajmg.a.32120. Am J Med Genet A. 2008. PMID: 18561337

10

Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.

Kosaki R, Naito Y, Torii C, Takahashi T, Nakajima T, Kosaki K. Kosaki R, et al. Among authors: kosaki k. Am J Med Genet A. 2008 Oct 1;146A(19):2574-7. doi: 10.1002/ajmg.a.32415. Am J Med Genet A. 2008. PMID: 18792980 No abstract available.

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