Misc
Kosaki Kenjiro
1-10 items (total 10)
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features
- Author
- Uehara T., Tsuchihashi T., Yamada M., Suzuki H., Takenouchi T., Kosaki K.
- Publication Title
- Volume 179(Issue 12) Start Page 2506 - End Page 2509 (Publication Date）2019/12）
- ISSN
- 15524825
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca
- Author
- Oiso N., Kubo A., Shimizu A., Suzuki H., Kosaki K., Chikugo T., Nakabayashi K., Hata K., Yanagihara S., Ishikawa O., Matsubara Y., Amagai M., Kawada A.
- Publication Title
- (Publication Date）2020）
- ISSN
- 00119059
Hypercoagulopathy Associated with Uniparental Disomy of Chromosome 2
- Author
- Takenouchi T., Yamada T., Kashiwagi Y., Yamaguchi Y., Uehara T., Kosaki K.
- Publication Title
- Volume 42(Issue 5) Start Page 370 - End Page 371 (Publication Date）2020/07）
- ISSN
- 10774114
IFT172 as the 19th gene causative of oral-facial-digital syndrome
- Author
- Yamada M., Uehara T., Suzuki H., Takenouchi T., Fukushima H., Morisada N., Tominaga K., Onoda M., Kosaki K.
- Publication Title
- Volume 179(Issue 12) Start Page 2510 - End Page 2513 (Publication Date）2019/12）
- ISSN
- 15524825
A call for global action for rare diseases in Africa
- Author
- Baynam G.S., Groft S., van der Westhuizen F.H., Gassman S.D., du Plessis K., Coles E.P., Selebatso E., Selebatso M., Gaobinelwe B., Selebatso T., Joel D., Llera V.A., Vorster B.C., Wuebbels B., Djoudalbaye B., Austin C.P., Kumuthini J., Forman J., Kaufmann P., Chipeta J., Gavhed D., Larsson A., Stojiljkovic M., Nordgren A., Roldan E.J.A., Taruscio D., Wong-Rieger D., Nowak K., Bilkey G.A., Easteal S., Bowdin S., Reichardt J.K.V., Beltran S., Kosaki K., van Karnebeek C.D.M., Gong M., Shuyang Z., Mehrian-Shai R., Adams D.R., Puri R.D., Zhang F., Pachter N., Muenke M., Nellaker C., Gahl W.A., Cederroth H., Broley S., Schoonen M., Boycott K.M., Posada M.
- Publication Title
- Volume 52(Issue 1) Start Page 21 - End Page 26 (Publication Date）2020/01）
- ISSN
- 10614036
Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension
- Author
- Suzuki H., Kataoka M., Hiraide T., Aimi Y., Yamada Y., Katsumata Y., Chiba T., Kanekura K., Isobe S., Sato Y., Satoh T., Gamou S., Fukuda K., Kosaki K.
- Publication Title
- Volume 11(Issue 12) (Publication Date）2018/12）
Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1
- Author
- Yoshida Y., Ehara Y., Kosaki K., Yamamoto O.
- Publication Title
- Volume 45(Issue 3) Start Page 363 - End Page 364 (Publication Date）2018/03）
- ISSN
- 03852407
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z)
- Author
- Shigemizu D., Miya F., Akiyama S., Okuda S., Boroevich K., Fujimoto A., Nakagawa H., Ozaki K., Niida S., Kanemura Y., Okamoto N., Saitoh S., Kato M., Yamasaki M., Matsunaga T., Mutai H., Kosaki K., Tsunoda T.
- Publication Title
- Volume 8(Issue 1) (Publication Date）2018/12）
SOX17 mutations in Japanese patients with pulmonary arterial hypertension
- Author
- Hiraide T., Kataoka M., Suzuki H., Aimi Y., Chiba T., Kanekura K., Satoh T., Fukuda K., Gamou S., Kosaki K.
- Publication Title
- Volume 198(Issue 9) Start Page 1231 - End Page 1233 (Publication Date）2018/11）
- ISSN
- 1073449X
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)
- Author
- Kato K., Miya F., Hori I., Ieda D., Ohashi K., Negishi Y., Hattori A., Okamoto N., Kato M., Tsunoda T., Yamasaki M., Kanemura Y., Kosaki K., Saitoh S.
- Publication Title
- (Publication Date）2019）
- ISSN
- 14345161