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1دورية أكاديمية
المؤلفون: Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Shipra Bhatia, Christopher T Gordon, Robert G Foster, Lucie Melin, Véronique Abadie, Geneviève Baujat, Marie-Paule Vazquez, Jeanne Amiel, Stanislas Lyonnet, Veronica van Heyningen, Dirk A Kleinjan
المصدر: PLoS Genetics, Vol 11, Iss 6, p e1005193 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4452300?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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3دورية أكاديمية
المؤلفون: Georgina Caruana, Peter G Farlie, Adam H Hart, Stefan Bagheri-Fam, Megan J Wallace, Michael S Dobbie, Christopher T Gordon, Kerry A Miller, Belinda Whittle, Helen E Abud, Ruth M Arkell, Timothy J Cole, Vincent R Harley, Ian M Smyth, John F Bertram
المصدر: PLoS ONE, Vol 8, Iss 3, p e55429 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3585849?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Kerry A Miller, Christopher T Gordon, Megan F Welfare, Georgina Caruana, John F Bertram, John F Bateman, Peter G Farlie
المصدر: PLoS ONE, Vol 8, Iss 10, p e76342 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3797057?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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5دورية أكاديمية
المؤلفون: Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara
المصدر: The Journal of Clinical Investigation, Vol 133, Iss 4 (2023)
مصطلحات موضوعية: Development, Genetics, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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6دورية أكاديمية
المؤلفون: Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
مصطلحات موضوعية: Science
العلاقة: https://doi.org/10.1038/s41467-021-21053-2Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/e484f6bf742d4dfaa468f76258820800Test
الإتاحة: https://doi.org/10.1038/s41467-021-21053-2Test
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800Test -
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المؤلفون: Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
المصدر: Genetics in Medicine. 24:2464-2474
مصطلحات موضوعية: Epilepsy, Autism Spectrum Disorder, Developmental Disabilities, Intellectual Disability, Ubiquitin-Protein Ligases, Mutation, Missense, Humans, Child, Seizures, Febrile, Genetics (clinical), Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402Test
https://doi.org/10.1016/j.gim.2022.08.020Test -
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المؤلفون: Marta Pacio‐Miguez, Manuel Parrón‐Pajares, Christopher T. Gordon, Fernando Santos‐Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F. Montaño, María Fernández, Mario Solís, Ángela del Pozo, Jeanne Amiel, Sixto García‐Miñaur, María Palomares‐Bralo
المصدر: American Journal of Medical Genetics Part A. 188:2819-2824
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c3acb808758b578b17f39fd98d2d207aTest
https://doi.org/10.1002/ajmg.a.62883Test -
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المؤلفون: Anne Guimier, Loïc de Pontual, Stephen R Braddock, Erin Torti, Luis A Pérez-Jurado, Patricia Muñoz-Cabello, Montserrat Arumí, Kristin G Monaghan, Hane Lee, Lee-kai Wang, Ilina D Pluym, Sally Ann Lynch, Karen Stals, Sian Ellard, Cécile Muller, Lucile Houyel, Laurence Cohen, Stanislas Lyonnet, Fanny Bajolle, Jeanne Amiel, Christopher T Gordon
المصدر: Human Molecular Genetics. 32:353-356
مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877008e6ce5744ec1c1ceaee829ea0d9Test
https://doi.org/10.1093/hmg/ddac084Test -
10دورية أكاديمية
المؤلفون: Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg, Susana Balcells
المصدر: Proceedings; Volume 22; Issue 1; Pages: 53
مصطلحات موضوعية: genetic disease, developmental delay, rare disease
وصف الملف: application/pdf