المؤلفون: Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Céline Huber, Carlos Antón-Plágaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J.Cullen, Shinji Saitoh, Kohji Kato

المصدر: Journal of Medical Genetics. 60:359-367

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a103af248072009599c3a071f407cb0Test
https://doi.org/10.1136/jmg-2022-108602Test

المؤلفون: Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi

المصدر: Genet Med

مصطلحات موضوعية: Hepatoblastoma, Male, Fetal Growth Retardation, Liver Neoplasms, Micrognathism, Dwarfism, Syndrome, Article, Cataract, Phenotype, Intellectual Disability, Humans, Female, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057Test
https://europepmc.org/articles/PMC9923403Test/

المؤلفون: Kohji Kato, Seiji Mizuno, Shinji Saitoh, Fuyuki Miya, Yasuyoshi Oka

المصدر: Journal of Human Genetics. 66:491-498

مصطلحات موضوعية: 0301 basic medicine, Genetics, Cutis marmorata, biology, Immunoprecipitation, Signal transducing adaptor protein, 030105 genetics & heredity, Proteomics, Phenotype, 03 medical and health sciences, 030104 developmental biology, Ubiquitin, biology.protein, medicine, Missense mutation, Global developmental delay, medicine.symptom, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cb56fb4293d37db23d7cbf2a2a880d6dTest
https://doi.org/10.1038/s10038-020-00868-9Test

المؤلفون: Alan R. Lehmann, Jenny Morton, Yuichiro Hara, Tomoo Ogi, Seiji Mizuno, Kohji Kato, Miho Toyama, Evangeline Wasmer

المصدر: American Journal of Medical Genetics Part A. 185:282-285

مصطلحات موضوعية: Delayed puberty, Genetics, Microcephaly, Juvenile cataract, business.industry, Genetic disorder, medicine.disease, Compound heterozygosity, Frameshift mutation, Intellectual disability, medicine, medicine.symptom, business, Genetics (clinical), Loss function

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd782af648ffa450d30da83f343e657fTest
https://doi.org/10.1002/ajmg.a.61927Test

المؤلفون: Sarah E.M. Stephenson, Gregory Costain, Laura E.R. Blok, Michael A. Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E. Alhuzaimi, James J. Dowling, Susan Walker, Kimberly Amburgey, Robin Z. Hayeems, Lance H. Rodan, Marc A. Schwartz, Jonathan Picker, Sally A. Lynch, Aditi Gupta, Kristen J. Rasmussen, Lisa A. Schimmenti, Eric W. Klee, Zhiyv Niu, Katherine E. Agre, Ilana Chilton, Wendy K. Chung, Anya Revah-Politi, P.Y. Billie Au, Christopher Griffith, Melissa Racobaldo, Annick Raas-Rothschild, Bruria Ben Zeev, Ortal Barel, Sebastien Moutton, Fanny Morice-Picard, Virginie Carmignac, Jenny Cornaton, Nathalie Marle, Orrin Devinsky, Chandler Stimach, Stephanie Burns Wechsler, Bryan E. Hainline, Katie Sapp, Marjolaine Willems, Ange-line Bruel, Kerith-Rae Dias, Carey-Anne Evans, Tony Roscioli, Rani Sachdev, Suzanna E.L. Temple, Ying Zhu, Joshua J. Baker, Ingrid E. Scheffer, Fiona J. Gardiner, Amy L. Schneider, Alison M. Muir, Heather C. Mefford, Amy Crunk, Elizabeth M. Heise, Francisca Millan, Kristin G. Monaghan, Richard Person, Lindsay Rhodes, Sarah Richards, Ingrid M. Wentzensen, Benjamin Cogné, Bertrand Isidor, Mathilde Nizon, Marie Vincent, Thomas Besnard, Amelie Piton, Carlo Marcelis, Kohji Kato, Norihisa Koyama, Tomoo Ogi, Elaine Suk-Ying Goh, Christopher Richmond, David J. Amor, Jessica O. Boyce, Angela T. Morgan, Michael S. Hildebrand, Antony Kaspi, Melanie Bahlo, Rún Friðriksdóttir, Hildigunnur Katrínardóttir, Patrick Sulem, Kári Stefánsson, Hans Tómas Björnsson, Simone Mandelstam, Manuela Morleo, Milena Mariani, Marcello Scala, Andrea Accogli, Annalaura Torella, Valeria Capra, Mathew Wallis, Sandra Jansen, Quinten Waisfisz, Hugoline de Haan, Simon Sadedin, Sze Chern Lim, Susan M. White, David B. Ascher, Annette Schenck, Paul J. Lockhart, John Christodoulou, Tiong Yang Tan

المساهمون: Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., Niu, Z., Agre, K. E., Chilton, I., Chung, W. K., Revah-Politi, A., Au, P. Y. B., Griffith, C., Racobaldo, M., Raas-Rothschild, A., Ben Zeev, B., Barel, O., Moutton, S., Morice-Picard, F., Carmignac, V., Cornaton, J., Marle, N., Devinsky, O., Stimach, C., Wechsler, S. B., Hainline, B. E., Sapp, K., Willems, M., Bruel, A. -L., Dias, K. -R., Evans, C. -A., Roscioli, T., Sachdev, R., Temple, S. E. L., Zhu, Y., Baker, J. J., Scheffer, I. E., Gardiner, F. J., Schneider, A. L., Muir, A. M., Mefford, H. C., Crunk, A., Heise, E. M., Millan, F., Monaghan, K. G., Person, R., Rhodes, L., Richards, S., Wentzensen, I. M., Cogne, B., Isidor, B., Nizon, M., Vincent, M., Besnard, T., Piton, A., Marcelis, C., Kato, K., Koyama, N., Ogi, T., Goh, E. S. -Y., Richmond, C., Amor, D. J., Boyce, J. O., Morgan, A. T., Hildebrand, M. S., Kaspi, A., Bahlo, M., Fridriksdottir, R., Katrinardottir, H., Sulem, P., Stefansson, K., Bjornsson, H. T., Mandelstam, S., Morleo, M., Mariani, M., Scala, M., Accogli, A., Torella, A., Capra, V., Wallis, M., Jansen, S., Weisfisz, Q., de Haan, H., Sadedin, S., Lim, S. C., White, S. M., Ascher, D. B., Schenck, A., Lockhart, P. J., Christodoulou, J., Tan, T. Y., Human genetics

المصدر: TUDP Study Group & Broad Center for Mendelian Genomics 2022, ' Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome ', American journal of human genetics, vol. 109, no. 4, pp. 601-617 . https://doi.org/10.1016/j.ajhg.2022.03.002Test
American Journal of Human Genetics, 109, 601-617
Am J Hum Genet
American journal of human genetics, 109(4), 601-617. Cell Press
American Journal of Human Genetics, 109, 4, pp. 601-617

مصطلحات موضوعية: F-box protein, Ubiquitin-Protein Ligase, Proteasome Endopeptidase Complex, F-Box-WD Repeat-Containing Protein 7, Ubiquitin-Protein Ligases, Neurodevelopment, global developmental delay, macrocephaly, Germ Cell, Article, All institutes and research themes of the Radboud University Medical Center, FBXW7, Neurodevelopmental Disorder, Genetics, Humans, hypotonia, Germ-Line Mutation, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], brain malformation, Ubiquitination, gastrointestinal issue, Germ Cells, intellectual disability, Neurodevelopmental Disorders, epilepsy, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86d68479414d6d44e2d08be3692959aTest
https://doi.org/10.1016/j.ajhg.2022.03.002Test

المؤلفون: Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki

المصدر: Journal of Human Genetics. 64:665-671

مصطلحات موضوعية: 0301 basic medicine, Pelizaeus-Merzbacher Disease, 030105 genetics & heredity, Biology, Decitabine, Asymptomatic, Piperazines, Cell Line, Frameshift mutation, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Spastic, Humans, Allele, Child, Frameshift Mutation, Myelin Proteolipid Protein, Gene, Alleles, Genetics (clinical), Exome sequencing, Paraplegia, Chromosomes, Human, X, RNA, Molecular biology, 030104 developmental biology, Cell culture, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0ca26c20146dd23595a28e34dfd313dTest
https://doi.org/10.1038/s10038-019-0600-xTest

المؤلفون: Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya

المصدر: Journal of Medical Genetics. 56:388-395

مصطلحات موضوعية: 0301 basic medicine, Mutation, Gene Abnormality, 030105 genetics & heredity, Gene mutation, Biology, medicine.disease_cause, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Neurodevelopmental disorder, Neuroblastoma, Genetics, medicine, Cancer research, Missense mutation, Megalencephaly, neoplasms, N-Myc, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da27adc62df01858a78804272162580bTest
https://doi.org/10.1136/jmedgenet-2018-105487Test

المؤلفون: Kenichi Mishima, Tadashi Nagata, Hiroshi Kitoh, Yasunari Kamiya, Tomoo Ogi, Masaki Matsushita, Naoki Ishiguro, Kohji Kato, Miho Toyama

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, lcsh:QH426-470, skeletal dysplasia, 030105 genetics & heredity, Biology, medicine.disease_cause, Achondroplasia, 03 medical and health sciences, symbols.namesake, Protein Domains, Genetics, medicine, Humans, Receptor, Fibroblast Growth Factor, Type 3, Allele, Molecular Biology, Alleles, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, Original Articles, medicine.disease, allele‐specific PCR, lcsh:Genetics, 030104 developmental biology, FGFR3, Child, Preschool, Mutation testing, symbols, Female, Original Article, Variants of PCR, exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608f3f5f67b1deb06b9bffc78f0e7a80Test
https://doi.org/10.1002/mgg3.1148Test