المؤلفون: Guo, Long, Salian, Smrithi, Xue, Jing-Yi, Rath, Nicola, Rousseau, Justine, Kim, Hyunyun, Ehresmann, Sophie, Moosa, Shahida, Nakagawa, Norio, Kuroda, Hiroshi, Clayton-Smith, Jill, Wang, Juan, Wang, Zheng, Banka, Siddharth, Jackson, Adam, Zhang, Yan-Min, Wei, Zhen-Jie, Hüning, Irina, Brunet, Theresa, Ohashi, Hirofumi, Thomas, Molly, Bupp, Caleb, Miyake, Noriko, Matsumoto, Naomichi, Mendoza-Londono, Roberto, Costain, Gregory, Hahn, Gabriele, Di Donato, Nataliya, Yigit, Gökhan, Yamada, Takahiro, Nishimura, Gen, Ansel, Karl, Wollnik, Bernd, Hrabě de Angelis, Martin, Mégarbané, André, Rosenfeld, Jill, Heissmeyer, Vigo, Ikegawa, Shiro, Campeau, Philippe

المصدر: American Journal of Human Genetics. 110(7)

مصطلحات موضوعية: ERI1, exoribonuclease, ribosomopathy, short stature, skeletal dysplasia, spondyloepimetaphyseal dysplasia, Humans, Exoribonucleases, Histones, Mutation, Missense, RNA, Ribosomal, 5.8S, RNA, RNA, Messenger

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3cz144h4Test
https://escholarship.org/content/qt3cz144h4/qt3cz144h4.pdfTest

المؤلفون: Takeda, Yukiko, Ueki, Masahiro, Matsuhiro, Junpei, Walinda, Erik, Tanaka, Takayuki, Yamada, Masafumi, Fujita, Hiroaki, Takezaki, Shunichiro, Kobayashi, Ichiro, Tamaki, Sakura, Nagata, Sanae, Miyake, Noriko, Matsumoto, Naomichi, Osawa, Mitsujiro, Yasumi, Takahiro, Heike, Toshio, Ohtake, Fumiaki, Saito, Megumu K., Toguchida, Junya, Takita, Junko, Ariga, Tadashi, Iwai, Kazuhiro

المساهمون: 武田, 有紀子, 植木, 将弘, 松廣, 淳平, 田中, 孝之, 山田, 雅文, 藤田, 宏明, 竹崎, 俊一郎, 小林, 一郎, 玉置, さくら, 永田, 早苗, 三宅, 紀子, 松本, 直通, 大澤, 光次郎, 八角, 高裕, 平家, 俊男, 大竹, 史明, 齋藤, 潤, 戸口田, 淳也, 滝田, 順子, 有賀, 正, 岩井, 一宏

مصطلحات موضوعية: Human disease genetics, Immunodeficiency

العلاقة: https://www.kyoto-u.ac.jp/ja/research-news/2024-04-25-0Test; http://hdl.handle.net/2433/287958Test; Journal of Experimental Medicine; 221; e2023194

الإتاحة: http://hdl.handle.net/2433/287958Test

المؤلفون: Higashimoto, Ken, Sun, Feifei, Imagawa, Eri, Saida, Ken, Miyake, Noriko, Hara, Satoshi, Yatsuki, Hitomi, Kubiura-Ichimaru, Musashi, Fujita, Atsushi, Mizuguchi, Takeshi, Matsumoto, Naomichi, Soejima, Hidenobu

مصطلحات موضوعية: Epigenetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/6/590Test; http://dx.doi.org/10.1136/jmg-2023-109621Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109621Test
http://jmg.bmj.com/cgi/content/short/61/6/590Test

المؤلفون: Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier

المساهمون: NIH, NHGRI, Takeda Science Foundation, AMED, National Research Foundation of Korea

المصدر: The American Journal of Human Genetics ; volume 111, issue 3, page 487-508 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.01.007Test
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000077?httpAccept=text/plainTest

المؤلفون: Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji (ORCID 0000-0001-6911-3351)

المصدر: Journal of Autism and Developmental Disorders. Dec 2021 51(12):4655-4662.

تمت مراجعته من قبل الزملاء: Y

Page Count: 8

الواصفات: Autism, Pervasive Developmental Disorders, Genetics, Etiology, Patients, Tests

المؤلفون: Beck, David B, Basar, Mohammed A, Asmar, Anthony J, Thompson, Joyce J, Oda, Hirotsugu, Uehara, Daniela T, Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W, Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J, Aksentijevich, Ivona, Kastner, Daniel L, Rocha, Pedro P, Werner, Achim

المصدر: Science Advances. 7(4)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Human Genome, Rare Diseases, Pediatric, Generic health relevance, Chromatin, Genomics, Humans, Signal Transduction, Ubiquitin, Ubiquitination, Undiagnosed Diseases Network

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9t7682d4Test

المؤلفون: Nguyen Thuy Duong, Luong Thi Lan Anh, Nguyen Huu Sau, Nguyen Bao Anh, Miyake Noriko, Nong Van Hai, Matsumoto Naomichi

المصدر: Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Life, QH501-531

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2054-345XTest

الوصول الحر: https://doaj.org/article/dc56089dd75746099c200cde83041a8eTest

المؤلفون: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi, Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber, Wentzensen, Ingrid, Crunk, Amy, Nicholls, Robert, Deignan, Joshua, Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien, Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory, Martinez, Jose, Finnila, Candice, Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju, Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han, Lindhout, Dick, Au, Margaret, Graham, John, Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques, Lessard, Julie, Ernst, Carl, Campeau, Philippe, Herman, Kristin

المصدر: American Journal of Human Genetics. 104(5)

مصطلحات موضوعية: ACTL6B, genetic engineering, intellectual disability, neurodevelopment, seizure, stem cells, Actins, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, Dendrites, Epilepsy, Female, Humans, Induced Pluripotent Stem Cells, Infant, Male, Mutation, Neurodevelopmental Disorders, Neurons, Young Adult

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0m384791Test

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

المؤلفون: Itai, Toshiyuki, Sugie, Atsushi, Nitta, Yohei, Maki, Ryuto, Suzuki, Takashi, Shinkai, Yoichi, Watanabe, Yoshihiro, Nakano, Yusuke, Ichikawa, Kazushi, Okamoto, Nobuhiko, Utsuno, Yasuhiro, Koshimizu, Eriko, Fujita, Atsushi, Hamanaka, Kohei, Uchiyama, Yuri, Tsuchida, Naomi, Miyake, Noriko, Misawa, Kazuharu, Mizuguchi, Takeshi, Miyatake, Satoko, Matsumoto, Naomichi

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-30968-3Test
https://www.nature.com/articles/s41598-023-30968-3.pdfTest
https://www.nature.com/articles/s41598-023-30968-3Test