A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome-like ectodermal dysplasia

por Hori, Asuka, Migita, Ohsuke, Isogawa, Nobutaka, Takada, Fumio, Hata, Kenichiro
Publicado 2022

Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization

por Ozawa, Nobuaki, Sago, Haruhiko, Matsuoka, Kentaro, Maruyama, Tetsuo, Migita, Ohsuke, Aizu, Yoshinori, Inazawa, Johji
Publicado 2016

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

por Hori, Asuka, Migita, Ohsuke, Kawaguchi-Kawata, Rika, Narumi-Kishimoto, Yoko, Takada, Fumio, Hata, Kenichiro
Publicado 2021

A novel FLNA variant in a fetus with skeletal dysplasia

por Oshina, Kyoko, Kamei, Yoshimasa, Hori, Asuka, Hasegawa, Fuyuki, Taniguchi, Kosuke, Migita, Ohsuke, Itakura, Atsuo, Hata, Kenichiro
Publicado 2022

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism

por Takahashi, Ken, Sato, Taisuke, Nishiyama, Miyuki, Sasaki, Aiko, Taniguchi, Kosuke, Migita, Ohsuke, Wada, Seiji, Hata, Kenichiro, Sago, Haruhiko
Publicado 2020

Automated urinary sediment detection for Fabry disease using deep-learning algorithms

por Uryu, Hidetaka, Migita, Ohsuke, Ozawa, Minami, Kamijo, Chikako, Aoto, Saki, Okamura, Kohji, Hasegawa, Fuyuki, Okuyama, Torayuki, Kosuga, Motomichi, Hata, Kenichiro
Publicado 2022

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

por Sato, Taisuke, Samura, Osamu, Kato, Noriko, Taniguchi, Kosuke, Takahashi, Ken, Ito, Yuki, Aoki, Hiroaki, Kobayashi, Masahisa, Migita, Ohsuke, Okamoto, Aikou, Hata, Kenichiro
Publicado 2018

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

por Hori, Asuka, Ogata-Kawata, Hiroko, Sasaki, Aiko, Takahashi, Ken, Taniguchi, Kosuke, Migita, Ohsuke, Kawashima, Akihiro, Okamoto, Aikou, Sekizawa, Akihiko, Sago, Haruhiko, Takada, Fumio, Nakabayashi, Kazuhiko, Hata, Kenichiro
Publicado 2021

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

por Silversides, Candice K., Lionel, Anath C., Costain, Gregory, Merico, Daniele, Migita, Ohsuke, Liu, Ben, Yuen, Tracy, Rickaby, Jessica, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Publicado 2012

VaProS: a database-integration approach for protein/genome information retrieval

por Gojobori, Takashi, Ikeo, Kazuho, Katayama, Yukie, Kawabata, Takeshi, Kinjo, Akira R., Kinoshita, Kengo, Kwon, Yeondae, Migita, Ohsuke, Mizutani, Hisashi, Muraoka, Masafumi, Nagata, Koji, Omori, Satoshi, Sugawara, Hideaki, Yamada, Daichi, Yura, Kei
Publicado 2016

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

por Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Publicado 2022

A genome-wide scan for common alleles affecting risk for autism

por Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Sykes, Nuala, Pagnamenta, Alistair T., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chu, Su H., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Devlin, Bernie, Ennis, Sean, Hallmayer, Joachim
Publicado 2010