Papers - Kosaki Kenjiro
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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
KOSAKI KENJIRO
臨床整形外科 39 ( 7 ) 979 - 982 2004.07
Research paper (scientific journal), Joint Work
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Marfanoid Habitus With Abnormal Situs.
Kosaki K ,Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M'
American Journal of Medical Genetics 127A ( 3 ) 310-312 2004.06
Research paper (scientific journal), Joint Work
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Somatic PTPN11 mutation with a heterogeneous clonal origin in children with juvenile myelomonocytic leukemia.
Shimada H, Mori T, Shimasaki N, Shimizu K, Takahashi T, Kosaki K
Leukemia 18 ( 6 ) 1142-1144 2004.06
Research paper (scientific journal), Joint Work
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Genitourinary anomaly in congenital varicella syndrome: case report and review.
Fujita H, Yoshii A, Maeda J, Kosaki K, Shishido S, Nakai H, Awazu M
Pediatric Nephrology 19 ( 5 ) 554-557 2004.05
Research paper (scientific journal), Joint Work
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Premature ovarian failure in a female with proximal symphalangism and noggin mutation.
Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T
Fertility and Sterility 81 ( 4 ) 1137-1139 2004.04
Research paper (scientific journal), Joint Work
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Position-specific expression of Hox genes along the gastrointestinal tract.
Yahagi N, Kosaki R, Ito T, Mitsuhashi T, Shimada H, Tomita M, Takahashi T, Kosaki K'
Congenital Anomalies 44 ( 1 ) 18-26 2004.03
Research paper (scientific journal), Joint Work
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EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome.
Shimasaki N, Watanabe K, Hara M, Kosaki K'
Pediatric Cardiology 25 ( - ) 411-413 2004
Research paper (scientific journal), Joint Work
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Absent inner dynein arms in a fetus with familial hydrocephalus-situs abnormality.
Kosaki K, Ikeda K, Miyakoshi K, Ueno M, Kosaki R, Takahashi D, Tanaka M, Torikata C, Yoshimura Y, Takahashi T
American Journal of Medical Genetics 129A ( 3 ) 308-311 2004
Research paper (scientific journal), Joint Work, Accepted
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Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
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
Journal of Medical Genetics 41 ( 6 ) e87 2004
Research paper (scientific journal), Joint Work, Accepted
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Hyperinsulinemic hypoglucemia in a newborn infant with trisomy 13.
Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T
American Journal Medical Genetics 129A ( ? ) 321-322 2004
Research paper (scientific journal), Joint Work
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A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam.
KOSAKI KENJIRO,Tamura K, Sato R, Samejima H, Tanigawara Y, Takahashi T
Brain and Development 26 530-534 2004
Research paper (scientific journal), Joint Work, Accepted
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Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB.
KOSAKI KENJIRO,Goto T, Aramaki M, Yoshihashi H, Nishimura G, Hasegawa Y, Takahashi T, Ishii T, Fukushima Y
Congenital Anomalies 44 225-229 2004
Research paper (scientific journal), Joint Work, Accepted
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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
KOSAKI KENJIRO
感染症学雑誌 78 262 - 269 2004
Research paper (scientific journal), Joint Work
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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
KOSAKI KENJIRO
日本眼科學会雑誌 108 482 - 488 2004
Research paper (scientific journal), Joint Work
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X-linked cubitus valgus with mental retardation and typical face.
Jones KL, Kosaki K, Hall BD
American Journal of Medical Genetics 123A 33-36 2003.11
Research paper (scientific journal), Joint Work
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EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.
Akahoshi K, Sakazume S, Kosaki K, Ohashi H, Fukushima Y
American Journal of Medical Genetics 120A ( 3 ) 370-373 2003.07
Research paper (scientific journal), Joint Work
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Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features.
'KOSAKI KENJIRO Ogata T, Sato S, Hasegawa Y, Kosaki K'
Endocrine Journal 50 ( 3 ) 319-324 2003.06
Research paper (scientific journal), Joint Work
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Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients.
Sasaki Goro, Ogata Tsutomu, Ishii Tomohiro, Kosaki Kenjiro, Sato Seiji, Homma Keiko, Takahashi Takao, Hasegawa Tomonobu, Matsuo Nobutake
Journal of clinical endocrinology and metabolism 88 ( 7 ) 3431 - 3436 2003
Research paper (scientific journal), Joint Work
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胃の前癌病変の遺伝子変化 H. pylori 感染との関連から
KOSAKI KENJIRO
生物物理化学 (日本電気泳動学会) 47 85 - 89 2003
Research paper (scientific journal), Joint Work
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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
KOSAKI KENJIRO
小児科臨床 56 1875 - 1879 2003
Research paper (scientific journal), Joint Work