Published papers
Kosaki Kenjiro
261-280 items (total 326)
Isoform-specific imprinting of the human PEG1/MEST gene.
- Author
- KOSAKI KENJIROKosaki K, Kosaki R, Craigen WJ, Matsuo N
- Publication Title
- Magazine name American Journal of Human Genetics Start Page 309-312 (Publication Date）2000）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
免疫不全を伴う短肢型小人症
- Author
- Kosaki Kenjiro, Yoshihashi Hiroshi
- Publication Title
- Volume *(Issue 32) Start Page 324-326 (Publication Date）2000/12）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
左右軸を決定する遺伝子
- Author
- Kosaki Kenjiro
- Publication Title
- Volume 63(Issue 12) Start Page 2152-2153 (Publication Date）2000/12）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
- Author
- KOSAKI KENJIROKosaki K, Kosaki R, Robinson WP, Craigen WJ, Shaffer LG, Sato S, Matsuo N.
- Publication Title
- Magazine name Journal of Medical Genetics, Volume 37(Issue E19) (Publication Date）2000/09）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome.
- Author
- KOSAKI KENJIROYoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K
- Publication Title
- Magazine name American Journal of Human Genetics Volume 67(Issue 2) Start Page 476-482 (Publication Date）2000/08）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: Analysis of the X-inactivation patterns
- Author
- Matsuo Mari, Muroya Koji, Nanao Kenji, Hasegawa Yukihiro, Kosaki Kenjiro, Ogata Tsutomu
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 91(Issue 4) Start Page 267-272 (Publication Date）2000/04）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
多発奇形症候群の遺伝子解析
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 63(Issue 増刊遺伝子診療学) Start Page 431 - End Page 436 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
多発奇形症侯群・染色体異常の遺伝カウンセリング
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 939 - End Page 948 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
患者データベースを用いた臨床実習システム
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 6 - End Page 10 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
先天異常症候群の遺伝子診断システム
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1317 - End Page 1321 (Publication Date）2005）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
DHPLC in clinical molecular diagnostic services
- Author
- KOSAKI KENJIROUdaka T, Okuyama T.
- Publication Title
- Magazine name Molecular Genetics and Metabolism Start Page 117 - End Page 123 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Comprehensive screening of CREBBP mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- Author
- KOSAKI KENJIRO,Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T
- Publication Title
- Magazine name Congenital Anomalies Start Page 125-131 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Iridic and retinal coloboma associated with prenatal methimazole exposure
- Author
- KOSAKI KENJIRO,Aramaki M, Hokuto I, Matsumoto T, Ishimoto H, Inoue M, Kimura T, Oikawa Y, Ikeda K, Yoshimura Y, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 156-158 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
OEIS compelx With del(3)(q12.2q13.2)
- Author
- KOSAKI KENJIRO,Kosaki R,Kawashima N, Ueoka K, Fukuhara Y, Kosuga M, Honna, T, Okuyama T
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 224-226 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Comprehensive screening of the thiopurine methyltransferase polymorphisms by using denaturing high-performance liquid chromatography
- Author
- KOSAKI KENJIRO,Udaka T, Torii C, Takahashi D, Mori T, Aramaki M, Kosaki R, Tanigawara Y, Takahashi T
- Publication Title
- Magazine name Genetic Testing Start Page 85-92 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplicatio
- Author
- KOSAKI KENJIRO,Kosaki R,Matsushima K, Mitsui N, Matsumoto N, Ohashi H
- Publication Title
- Magazine name Congenital Anomalies Start Page 62-64 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Deletion involving the TWIST locus and the HOXA cluster: A contiguous gene syndrome on 7p?
- Author
- KOSAKI KENJIRO,Kosaki R, Mitsui N, Matsushima K, Ohashi H
- Publication Title
- Magazine name Congenital Anomalies Start Page 35-38 (Publication Date）2005）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Fluorescence in situ hybridization 法および restriction fragment length polymorphism 法を併用した網膜芽細胞腫の遺伝子診断
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 482 - End Page 488 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
小児病棟における, インフルエンザ接触者へのオセルタミビル予防内服効果
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 262 - End Page 269 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB.
- Author
- KOSAKI KENJIRO,Goto T, Aramaki M, Yoshihashi H, Nishimura G, Hasegawa Y, Takahashi T, Ishii T, Fukushima Y
- Publication Title
- Magazine name Congenital Anomalies Start Page 225-229 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With