Papers - Kosaki Kenjiro
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Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism
KOSAKI KENJIRO,Kosaki R, Hanai S, Kakishima H, Okada MA, Hayashi S, Ito Y, Takahashi T
Congenital Amomalies 46 115-117 2006
Research paper (scientific journal), Joint Work, Accepted
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Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome
KOSAKI KENJIRO,Niu D,Huang J, Li H, Liu K, Wang S, Chen Y, Udaka T, Izumi K
Prenatal Diagnosis 26 1054-1057 2006
Research paper (scientific journal), Joint Work, Accepted
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Genome-wide screening of dioxin-responsive genes in fetal brain: bioinformatic and experimental approaches
KOSAKI KENJIRO,Fujita H, Samejima H, Kitagawa N, Mitsuhashi T, Washio T, Yonemoto J, Tomita M, Takahashi T
Congenital Anomalies 46 135-143 2006
Research paper (scientific journal), Joint Work, Accepted
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Screening for partial deletions of CREBBP locus in Rubinstein-Taybi Syndrome patients using multiplex PCR / Liquid chromatography
KOSAKI KENJIRO,Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T
Genetic Testing 10 265-271 2006
Research paper (scientific journal), Joint Work, Accepted
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Comprehensive screening of CHD7 mutations among patients with CHARGE Syndrome using denaturing high-performance liquid chromatography
KOSAKI KENJIRO,Aramaki M, Udaka T, Torii C, Samejima H, Kosaki R, Takahashi T
Genetic Testing 10 244-251 2006
Research paper (scientific journal), Joint Work
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Kallmann Syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation
KOSAKI KENJIRO,Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T
Endocrine Journal 53 741-743 2006
Research paper (scientific journal), Joint Work, Accepted
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Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: Evidence regarding developmental pathogenesis.
KOSAKI KENJIRO,Izumi K, Jones KL, Benirschke K
Fetal and Pediatric Pathology 25 233-240 2006
Research paper (scientific journal), Joint Work, Accepted
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Monopolar preparation of human lymphocytes for evaluation of the metaphase chromosome alignment
KOSAKI KENJIRO,Kimura R, Takeshima K, Mizuno S, Machida J, Kamamoto M, Muro Y, Shimosato K, Wakamatsu N, Sonta S, Ono T
Chromosome Science 9 75-83 2006
Research paper (scientific journal), Joint Work, Accepted
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低身長(小人症)を伴う遺伝性(先天性)症候群 Russell-Silver症候群
KOSAKI KENJIRO
日本臨床 別冊 内分泌症候群 III 436 - 439 2006
Research paper (scientific journal), Joint Work
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Deletion involving the TWIST locus and the HOXA cluster: A contiguous gene syndrome on 7p?
KOSAKI KENJIRO,Kosaki R, Mitsui N, Matsushima K, Ohashi H
Congenital Anomalies 45 35-38 2005
Research paper (scientific journal), Joint Work, Accepted
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Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplicatio
KOSAKI KENJIRO,Kosaki R,Matsushima K, Mitsui N, Matsumoto N, Ohashi H
Congenital Anomalies 45 62-64 2005
Research paper (scientific journal), Joint Work
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Comprehensive screening of the thiopurine methyltransferase polymorphisms by using denaturing high-performance liquid chromatography
KOSAKI KENJIRO,Udaka T, Torii C, Takahashi D, Mori T, Aramaki M, Kosaki R, Tanigawara Y, Takahashi T
Genetic Testing 9 85-92 2005
Research paper (scientific journal), Joint Work, Accepted
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OEIS compelx With del(3)(q12.2q13.2)
KOSAKI KENJIRO,Kosaki R,Kawashima N, Ueoka K, Fukuhara Y, Kosuga M, Honna, T, Okuyama T
American Journal of Medical Genetics 135 224-226 2005
Research paper (scientific journal), Joint Work, Accepted
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Iridic and retinal coloboma associated with prenatal methimazole exposure
KOSAKI KENJIRO,Aramaki M, Hokuto I, Matsumoto T, Ishimoto H, Inoue M, Kimura T, Oikawa Y, Ikeda K, Yoshimura Y, Takahashi T
American Journal of Medical Genetics 139 156-158 2005
Research paper (scientific journal), Joint Work
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Comprehensive screening of CREBBP mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
KOSAKI KENJIRO,Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T
Congenital Anomalies 45 125-131 2005
Research paper (scientific journal), Joint Work, Accepted
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DHPLC in clinical molecular diagnostic services
KOSAKI KENJIROUdaka T, Okuyama T.
Molecular Genetics and Metabolism 86 117 - 123 2005
Research paper (scientific journal), Joint Work
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先天異常症候群の遺伝子診断システム
KOSAKI KENJIRO
小児内科 37 1317 - 1321 2005
Research paper (scientific journal), Single Work
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患者データベースを用いた臨床実習システム
KOSAKI KENJIRO
IT活用教育方法研究 8 6 - 10 2005
Research paper (scientific journal), Joint Work
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多発奇形症侯群・染色体異常の遺伝カウンセリング
KOSAKI KENJIRO
小児科 46 939 - 948 2005
Research paper (scientific journal), Joint Work
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多発奇形症候群の遺伝子解析
KOSAKI KENJIRO
日本臨床 63 ( 増刊遺伝子診療学 ) 431 - 436 2005
Research paper (scientific journal), Joint Work