医学部臨床遺伝学センター

研究成果

フィルター
Review article

Dermal hypoplasia, focal

Kosaki, K. & Yoshihashi, H., 2001, : : Ryōikibetsu shōkōgun shirīzu. 33, p. 545-547 3 p.

研究成果: Review article

DHPLC in clinical molecular diagnostic services

Kosaki, K., Udaka, T. & Okuyama, T., 2005 1 1, : : Molecular Genetics and Metabolism. 86, 1-2, p. 117-123 7 p.

研究成果: Review article

36 引用 (Scopus)

Dwarfism (short limbed)--Peters anomaly of the eye

Kosaki, K. & Yoshihashi, H., 2001, : : Ryōikibetsu shōkōgun shirīzu. 33, p. 574-575 2 p.

研究成果: Review article

1 引用 (Scopus)
公開
4 引用 (Scopus)

Governance and measures for the ethical and social aspects of biobanks

Iwae, S. & Masui, T., 2012 4, : : Japanese Journal of Cancer and Chemotherapy. 39, 4, p. 493-497 5 p.

研究成果: Review article

International network of cancer genome projects

Hudson, T. J., Anderson, W., Aretz, A., Barker, A. D., Bell, C., Bernabé, R. R., Bhan, M. K., Calvo, F., Eerola, I., Gerhard, D. S., Guttmacher, A., Guyer, M., Hemsley, F. M., Jennings, J. L., Kerr, D., Klatt, P., Kolar, P., Kusuda, J., Lane, D. P., Laplace, F. および241人, Lu, Y., Nettekoven, G., Ozenberger, B., Peterson, J., Rao, T. S., Remacle, J., Schafer, A. J., Shibata, T., Stratton, M. R., Vockley, J. G., Watanabe, K., Yang, H., Yuen, M. M. F., Knoppers, B. M., Bobrow, M., Cambon-Thomsen, A., Dressler, L. G., Dyke, S. O. M., Joly, Y., Kato, K., Kennedy, K. L., Nicolás, P., Parker, M. J., Rial-Sebbag, E., Romeo-Casabona, C. M., Shaw, K. M., Wallace, S., Wiesner, G. L., Zeps, N., Lichter, P., Biankin, A. V., Chabannon, C., Chin, L., Clément, B., Alava, E. D., Degos, F., Ferguson, M. L., Geary, P., Hayes, D. N., Johns, A. L., Kasprzyk, A., Nakagawa, H., Penny, R., Piris, M. A., Sarin, R., Scarpa, A., De Vijver, M. V., Futreal, P. A., Aburatani, H., Bayés, M., Bowtell, D. D. L., Campbel, P. J., Estivill, X., Grimmond, S. M., Gut, I., Hirst, M., López-Otý́n, C., Majumder, P., Marra, M., McPherson, J. D., Ning, Z., Puente, X. S., Ruan, Y., Stunnenberg, H. G., Swerdlow, H., Velculescu, V. E., Wilson, R. K., Xue, H. H., Yang, L., Spellman, P. T., Bader, G. D., Boutros, P. C., Flicek, P., Getz, G., Guigó, R., Guo, G., Haussler, D., Heath, S., Hubbard, T. J., Jiang, T., Jones, S. M., Li, Q., López-Bigas, N., Luo, R., Muthuswamy, L., Ouellette, B. F. F., Pearson, J. V., Quesada, V., Raphael, B. J., Sander, C., Speed, T. P., Stein, L. D., Stuart, J. M., Teague, J. W., Totoki, Y., Tsunoda, T., Valencia, A., Wheeler, D. A., Wu, H., Zhao, S., Zhou, G., Lathrop, M., Thomas, G., Yoshida, T., Axton, M., Gunter, C., Miller, L. J., Zhang, J., Haider, S. A., Wang, J., Yung, C. K., Cross, A., Liang, Y., Gnaneshan, S., Guberman, J., Hsu, J., Chalmers, D. R. C., Hasel, K. W., Kaan, T. S. H., Lowrance, W. W., Masui, T., Rodriguez, L. L., Vergely, C., Bowtel, D. D. L., Cloonan, N., DeFazio, A., Eshleman, J. R., Etemadmoghadam, D., Gardiner, B. A., Kench, J. G., Sutherland, R. L., Tempero, M. A., Waddell, N. J., Wilson, P. J., Gallinger, S., Tsao, M. S., Shaw, P. A., Petersen, G. M., Mukhopadhyay, D., DePinho, R. A., Thayer, S., Shazand, K., Beck, T., Sam, M., Timms, L., Ballin, V., Ji, J., Zhang, X., Chen, F., Hu, X., Yang, Q., Tian, G., Zhang, L., Xing, X., Li, X., Zhu, Z., Yu, Y., Yu, J., Tost, J., Brennan, P., Holcatova, I., Zaridze, D., Brazma, A., Egevad, L., Prokhortchouk, E., Banks, R. E., Uhlén, M., Viksna, J., Ponten, F., Skryabin, K., Futrea, P. A., Birney, E., Borg, A., Børresen-Dale, A. L., Caldas, C., Foekens, J. A., Martin, S., Reis-Filho, J. S., Richardson, A. L., Sotiriou, C., Veer, L. V. T., Birnbaum, D., Blanche, H., Boucher, P., Boyault, S., Masson-Jacquemier, J. D., Pauporté, I., Pivot, X., Vincent-Salomon, A., Tabone, E., Theillet, C., Treilleux, I., Bioulac-Sage, P., Decaens, T., OiseDegos, F., Franco, D., Gut, M., Samuel, D., Zucman-Rossi, J., Eils, R., Brors, B., Korbe, J. O., Korshunov, A., Landgraf, P., Lehrach, H., Pfister, S., Radlwimmer, B., Reifenberger, G., Taylor, M. D., Kalle, C. V., Majumder, P. P., Rao, T. S., Pederzoli, P., Lawlor, R. T., Delledonne, M., Bardelli, A., Gress, T., Klimstra, D., Zamboni, G., Nakamura, Y., Miyano, S., Fujimoto, A., Campo, E., Sanjosé, S. D., Montserrat, E., González-Dý́az, M., Jares, P., Himmelbaue, H., Bea, S., Aparicio, S., Easton, D. F., Collins, F. S., Compton, C. C., Lander, E. S., Burke, W., Green, A. R., Hamilton, S. R., Kallioniemi, O. P., Ley, T. J., Liu, E. T. & Wainwright, B. J., 2010 4 15, : : Nature. 464, 7291, p. 993-998 6 p.

研究成果: Review article

1325 引用 (Scopus)

Jarcho-Levin syndrome

Kosaki, K., 2001, : : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 681-682 2 p.

研究成果: Review article

Medical genetics and genomic medicine in Japan

Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 6, : : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.

研究成果: Review article

1 引用 (Scopus)

Molecular diagnosis of multiple malformation syndrome

Torii, C. & Kosaki, K., 2005 12, : : Nippon rinsho. Japanese journal of clinical medicine. 63 Suppl 12, p. 431-436 6 p.

研究成果: Review article

7 引用 (Scopus)

Russell-Silver syndrome

Kosaki, K., Izumi, K. & Hasegawa, T., 2006 9 28, : : Nippon rinsho. Japanese journal of clinical medicine. Suppl 3, p. 436-439 4 p.

研究成果: Review article

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 6, : : American Journal of Medical Genetics, Part A. 179, 6, p. 896-899 4 p.

研究成果: Review article

公開
1 引用 (Scopus)

Short-limb skeletal dysplasia with immunodeficiency

Kosaki, K. & Yoshihashi, H., 2000, : : Ryōikibetsu shōkōgun shirīzu. 32, p. 324-326 3 p.

研究成果: Review article

1 引用 (Scopus)

Silver-Russell syndrome

Kosaki, K. & Yoshihashi, H., 2001, : : Ryōikibetsu shōkōgun shirīzu. 34 Pt 2, p. 635-637 3 p.

研究成果: Review article

1 引用 (Scopus)