Published papers
Kosaki Kenjiro
241-260 items (total 326)
Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research.
- Author
- KOSAKI KENJIRO,Kosaki K.
- Publication Title
- Magazine name Congenit Anom Start Page 51:12-15. (Publication Date）2011）
- Authorship Category
- Single Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.
- Author
- KOSAKI KENJIRO,Honda H, Takubo K, Oda H, Kosaki K, Tazaki T, Yamasaki N, Miyazaki K, Moore KA, Honda Z, Suda T, Lemischka IR.
- Publication Title
- Magazine name Proc Natl Acad Sci U S A Start Page 2468-2473 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Reproductive success in patients with Hallermann-Streiff syndrome.
- Author
- KOSAKI KENJIRO,Numabe H, Sawai H, Yamagata Z, Muto K, Kosaki R, Yuki K, Kosaki K.
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 155A(Issue 9) Start Page 2311-3 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8M base interval.
- Author
- KOSAKI KENJIRO,Kosaki K, Saito H, Kosaki R, Torii C, Kishi K, Takahashi T.
- Publication Title
- Magazine name American Journal of Medical Genetics Volume 155A(Issue 9) Start Page 2212-4 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Reversible diffuse white matter lesion in Alagille syndrome.
- Author
- KOSAKI KENJIRO,Takenouchi T, Shimozato S, Kosaki K, Momoshima S, Takahashi T.
- Publication Title
- Magazine name Pediatric Neurology Volume 45(Issue 1) Start Page 54-6 (Publication Date）2011）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- With
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways.
- Author
- KOSAKI KENJIRO Takenouchi T, Sakamoto Y, Miwa T, Torii C, Kosaki R, Kishi K, Takahashi T, Kosaki K.
- Publication Title
- Magazine name Am J Med Genet A Volume 164(Issue (11)) Start Page 2869 - End Page 2872 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
KIF1A mutation in a patient with progressive neurodegeneration.
- Author
- KOSAKI KENJIRO Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.
- Publication Title
- Magazine name J Hum Genet Volume 59(Issue (11)) Start Page 639 - End Page 641 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study.
- Author
- KOSAKI KENJIRO Maruoka R, Takenouchi T, Torii C, Shimizu A, Misu K, Higasa K, Matsuda F, Ota A, Tanito K, Kuramochi A, Arima Y, Otsuka F, Yoshida Y, Moriyama K, Niimura M, Saya H, Kosaki K.
- Publication Title
- Magazine name Genet Test Mol Biomarkers Volume 18(Issue (11)) Start Page 722 - End Page 735 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency
- Author
- KOSAKI KENJIRO Takenouchi T, Tsukahara Y, Horikawa R, Kosaki K, Kosaki R.
- Publication Title
- Magazine name Am J Med Genet A Volume 164(Issue (10)) Start Page 2679 - End Page 2681 (Publication Date）2014）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
【成長障害】 最新のトピックス Russell-Silver症候群 第7番染色体母性片親性ダイソミーをめぐる話題
- Author
- Kosaki Kenjirou，Yoshihashi Hiroshi
- Publication Title
- Magazine name 小児科診療 Start Page 911-914 (Publication Date）2001）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Russell-Silver症候群 染色体・奇形
- Author
- KOSAKI KENJIRO
- Publication Title
- Volume 64(Issue 増刊) Start Page 57 (Publication Date）2001）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Dermal hypoplasia, focal
- Author
- KOSAKI KENJIRO
- Publication Title
- Start Page 545-547 (Publication Date）2001）
- 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
- Publication Title
- Start Page 574-575 (Publication Date）2001）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Reply to Mergenthaler et al.
- 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 Start Page 544-546 (Publication Date）2001）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis.
- Author
- KOSAKI KENJIROIshii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N
- Publication Title
- Magazine name Journal of Clinical Endocrinology and Metabolism Volume 86(Issue 11) Start Page 5372-5378 (Publication Date）2001/11）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome.
- Author
- KOSAKI KENJIRO Kosaki R, Ohashi H, Yoshihashi H, Suzuki T, Kosaki K
- Publication Title
- Magazine name Clinical Genetics Volume 60(Issue 4) Start Page 314-315 (Publication Date）2001/10）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID).
- Author
- Kosaki K, Shimasaki N, Fukushima H, Hara M, Ogata T, Matsuo N
- Publication Title
- Magazine name American Journal of Human Genetics Volume 69(Issue 3) Start Page 664-666 (Publication Date）2001/09）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder.
- Author
- KOSAKI KENJIROKosaki K, Suzuki T, Kosaki R, Yoshihashi H, Itoh M, Goto Y, Matsuo N
- Publication Title
- Magazine name Molecular Psychiatry Volume 6(Issue 1) Start Page 87-91 (Publication Date）2001/06）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Mutation analysis of left-right axis determining genes in NOD and ICR, strains susceptible to maternal diabetes.
- Author
- KOSAKI KENJIROMaeyama K, Kosaki R, Yoshihashi H, Casey B, Kosaki K
- Publication Title
- Magazine name Teratology Volume 63(Issue 3) Start Page 119-126 (Publication Date）2001/03）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without
Fluorescence-based DHPLC for allelic quantification by single-nucleotide primer extension.
- Author
- KOSAKI KENJIROKosaki K, Yoshihashi H, Ohashi Y, Kosaki R, Suzuki T, Matsuo N
- Publication Title
- Magazine name Journal of Biochemical and Biophysical Methods Volume 47(Issue 1-2) Start Page 111-119 (Publication Date）2001/01）
- Authorship Category
- Joint Work
- Publication Category
- Research paper (scientific journal)
- Peer-review Status
- Without