Published papers
Kosaki Kenjiro
281-300 items (total 326)
A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam.
- Author
- KOSAKI KENJIRO,Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T
- Publication Title
- Magazine name Brain and Development Start Page 530-534 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Hyperinsulinemic hypoglucemia in a newborn infant with trisomy 13.
- Author
- Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T
- Publication Title
- Magazine name American Journal Medical Genetics Volume 129A(Issue ?) Start Page 321-322 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
- Author
- Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA
- Publication Title
- Magazine name Journal of Medical Genetics Volume 41(Issue 6) Start Page e87 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality.
- Author
- Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 129A(Issue 3) Start Page 308-311 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome.
- Author
- Shimasaki N, Watanabe K, Hara M, Kosaki K'
- Publication Title
- Magazine name Pediatric Cardiology Volume 25(Issue -) Start Page 411-413 (Publication Date）2004）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
筋強直性ジストロフィー，神経線維腫症１型およびNoonan症候群の合併例に発生した側弯症の治療経験
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 39(Issue 7) Start Page 979 - End Page 982 (Publication Date）2004/07）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Somatic PTPN11 mutation with a heterogeneous clonal origin in children with juvenile myelomonocytic leukemia.
- Author
- Shimada H, Mori T, Shimasaki N, Shimizu K, Takahashi T, Kosaki K
- Publication Title
- Magazine name Leukemia Volume 18(Issue 6) Start Page 1142-1144 (Publication Date）2004/06）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Marfanoid Habitus With Abnormal Situs.
- Author
- Kosaki K ,Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M'
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 127A(Issue 3) Start Page 310-312 (Publication Date）2004/06）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Genitourinary anomaly in congenital varicella syndrome: case report and review.
- Author
- Fujita H, Yoshii A, Maeda J, Kosaki K, Shishido S, Nakai H, Awazu M
- Publication Title
- Magazine name Pediatric Nephrology Volume 19(Issue 5) Start Page 554-557 (Publication Date）2004/05）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Premature ovarian failure in a female with proximal symphalangism and noggin mutation.
- Author
- Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T
- Publication Title
- Magazine name Fertility and Sterility Volume 81(Issue 4) Start Page 1137-1139 (Publication Date）2004/04）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Position-specific expression of Hox genes along the gastrointestinal tract.
- Author
- Yahagi N, Kosaki R, Ito T, Mitsuhashi T, Shimada H, Tomita M, Takahashi T, Kosaki K'
- Publication Title
- Magazine name Congenital Anomalies Volume 44(Issue 1) Start Page 18-26 (Publication Date）2004/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
小球性低色素性貧血を手がかりとして発見されたサラセミアの一家系
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 1875 - End Page 1879 (Publication Date）2003）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
胃の前癌病変の遺伝子変化 H. pylori 感染との関連から
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 85 - End Page 89 (Publication Date）2003）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
- Author
- Sasaki Goro, Ogata Tsutomu, Ishii Tomohiro, Kosaki Kenjiro, Sato Seiji, Homma Keiko, Takahashi Takao, Hasegawa Tomonobu, Matsuo Nobutake
- Publication Title
- Magazine name Journal of clinical endocrinology and metabolism Volume 88(Issue 7) Start Page 3431 - End Page 3436 (Publication Date）2003）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
X-linked cubitus valgus with mental retardation and typical face.
- Author
- Jones KL, Kosaki K, Hall BD
- Publication Title
- Magazine name American Journal of Medical Genetics Start Page 33-36 (Publication Date）2003/11）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.
- Author
- Akahoshi K, Sakazume S, Kosaki K, Ohashi H, Fukushima Y
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 120A(Issue 3) Start Page 370-373 (Publication Date）2003/07）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features.
- Author
- 'KOSAKI KENJIRO Ogata T, Sato S, Hasegawa Y, Kosaki K'
- Publication Title
- Magazine name Endocrine Journal Volume 50(Issue 3) Start Page 319-324 (Publication Date）2003/06）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
遺伝学はゲノム情報でどう変わるか ?ポストゲノム時代を展望する
- Author
- Kosaki Kenjirou
- Publication Title
- Start Page 158-164 (Publication Date）2002/11）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
- Author
- KOSAKI KENJIROKosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T
- Publication Title
- Magazine name Journal of Clinical Endocrinology and Metabolism Volume 87(Issue 8) Start Page 3529-3533 (Publication Date）2002/08）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
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.
- Author
- KOSAKI KENJIROKosaki K, Ogata T, Kosaki R, Sato S, Matsuo N
- Publication Title
- Magazine name Ophthalmic Genetics Volume 23(Issue 1) Start Page 43-47 (Publication Date）2002/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without