المؤلفون: Tesi, Bianca, Boileau, Catherine, Boycott, Kym M., Canaud, Guillaume, Caulfield, Mark, Choukair, Daniela, Hill, Sue, Spielmann, Malte, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lindstrand, Anna

المصدر: Journal of Internal Medicine. 294(4):397-412

مصطلحات موضوعية: data sharing, gene therapy, genome sequencing, molecular diagnosis, precision medicine, rare diseases

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-338662
https://doi.org/10.1111/joim.13655

المؤلفون: Del Gobbo, Giulia F., Wang, Xueqi, MacDonald, Stella K., Liang, Yijing, McMillan, Hugh J., Lemire, Gabrielle, Boycott, Kym M.

المساهمون: Ontario Research Foundation, Genome Alberta, Genome British Columbia, Génome Québec, Genome Canada, Canadian Institutes of Health Research, Children's Hospital of Eastern Ontario Foundation, Fonds de Recherche du Québec - Santé

المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63944
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63944

المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon

المساهمون: Genetica, Genetica Sectie Research, Cancer, Child Health

مصطلحات موضوعية: General Medicine

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454122

الاتاحة: https://dspace.library.uu.nl/handle/1874/454122

المؤلفون: Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-024-47898-x
https://www.nature.com/articles/s41467-024-47898-x.pdf
https://www.nature.com/articles/s41467-024-47898-x

المؤلفون: Pellerin, David, Heindl, Felix, Wilke, Carlo, Danzi, Matt C., Traschütz, Andreas, Ashton, Catherine, Dicaire, Marie-Josée, Cuillerier, Alexanne, Del Gobbo, Giulia, Boycott, Kym M., Claassen, Jens, Rujescu, Dan, Hartmann, Annette M., Zuchner, Stephan, Brais, Bernard, Strupp, Michael, Synofzik, Matthis

المساهمون: Else Kröner-Fresenius-Stiftung, The Montreal General Hospital Foundation, NIH, Horizon 2020, Canadian Institutes of Health Research

المصدر: eBioMedicine ; volume 102, page 105076 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2024.105076
https://api.elsevier.com/content/article/PII:S2352396424001117?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396424001117?httpAccept=text/plain

المؤلفون: Lloyd, KC Kent, Adams, David J, Baynam, Gareth, Beaudet, Arthur L, Bosch, Fatima, Boycott, Kym M, Braun, Robert E, Caulfield, Mark, Cohn, Ronald, Dickinson, Mary E, Dobbie, Michael S, Flenniken, Ann M, Flicek, Paul, Galande, Sanjeev, Gao, Xiang, Grobler, Anne, Heaney, Jason D, Herault, Yann, de Angelis, Martin Hrabě, Lupski, James R, Lyonnet, Stanislas, Mallon, Ann-Marie, Mammano, Fabio, MacRae, Calum A, McInnes, Roderick, McKerlie, Colin, Meehan, Terrence F, Murray, Stephen A, Nutter, Lauryl MJ, Obata, Yuichi, Parkinson, Helen, Pepper, Michael S, Sedlacek, Radislav, Seong, Je Kyung, Shiroishi, Toshihiko, Smedley, Damian, Tocchini-Valentini, Glauco, Valle, David, Wang, Chi-Kuang Leo, Wells, Sara, White, Jacqueline, Wurst, Wolfgang, Xu, Ying, Brown, Steve DM

المصدر: Genome Biology. 21(1)

مصطلحات موضوعية: Animals, Genes, Genome, Humans, Mice, Mutation, Phenotype, Proteins, Environmental Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9js9j27m
https://escholarship.org/content/qt9js9j27m/qt9js9j27m.pdf

المؤلفون: Sluijs, Pleuntje J. van der, Moutton, Sebastien, Dingemans, A.J.M., Weis, Denisa, Levy, Michael A., Boycott, Kym M., Kempers, M.J.E., Vries, B.B.A. de, Alders, Marielle, Santen, Gijs W.E.

المصدر: Genetics in Medicine, 27, 1, pp. 101283

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf; https://hdl.handle.net/2066/313611

الاتاحة: https://hdl.handle.net/2066/313611
https://repository.ubn.ru.nl//bitstream/handle/2066/313611/313611.pdf
https://doi.org/10.1016/j.gim.2024.101283

المؤلفون: Frésard, Laure, Smail, Craig, Ferraro, Nicole M, Teran, Nicole A, Li, Xin, Smith, Kevin S, Bonner, Devon, Kernohan, Kristin D, Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R, Liu, Boxiang, Prybol, Cameron J, Kohler, Jennefer N, Zastrow, Diane B, Reuter, Chloe M, Fisk, Dianna G, Grove, Megan E, Davidson, Jean M, Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J, Utiramerur, Sowmithri, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A, Ashley, Euan A, Boycott, Kym M, Merker, Jason D, Wheeler, Matthew T, Montgomery, Stephen B

المصدر: Nature medicine. 25(6)

مصطلحات موضوعية: Undiagnosed Diseases Network, Care4Rare Canada Consortium, Humans, Rare Diseases, Oxidoreductases Acting on CH-CH Group Donors, Potassium Channels, RNA, Case-Control Studies, Cohort Studies, Sequence Analysis, RNA, RNA Splicing, Mutation, Models, Genetic, Child, Child, Preschool, Female, Male, Genetic Variation, Acid Ceramidase, Whole Exome Sequencing, Human Genome, Clinical Research, Genetics, Biotechnology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Immunology, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4gq9c79v

المؤلفون: Boycott, Kym M, Hartley, Taila, Biesecker, Leslie G, Gibbs, Richard A, Innes, A Micheil, Riess, Olaf, Belmont, John, Dunwoodie, Sally L, Jojic, Nebojsa, Lassmann, Timo, Mackay, Deborah, Temple, I Karen, Visel, Axel, Baynam, Gareth

المصدر: Cell. 177(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Biomedical Imaging, Human Genome, Genetics, Good Health and Well Being, Exome, Genetic Testing, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Rare Diseases, Sequence Analysis, DNA, Translational Research, Biomedical, Exome Sequencing, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

URL الوصول: https://escholarship.org/uc/item/39v5c2tk

المؤلفون: Johnstone, Devon L, Al-Shekaili, Hilal H, Tarailo-Graovac, Maja, Wolf, Nicole I, Ivy, Autumn S, Demarest, Scott, Roussel, Yann, Ciapaite, Jolita, van Roermund, Carlo WT, Kernohan, Kristin D, Kosuta, Ceres, Ban, Kevin, Ito, Yoko, McBride, Skye, Al-Thihli, Khalid, Abdelrahim, Rana A, Koul, Roshan, Al Futaisi, Amna, Haaxma, Charlotte A, Olson, Heather, Sigurdardottir, Laufey Yr, Arnold, Georgianne L, Gerkes, Erica H, Boon, M, Heiner-Fokkema, M Rebecca, Noble, Sandra, Bosma, Marjolein, Jans, Judith, Koolen, David A, Kamsteeg, Erik-Jan, Drögemöller, Britt, Ross, Colin J, Majewski, Jacek, Cho, Megan T, Begtrup, Amber, Wasserman, Wyeth W, Bui, Tuan, Brimble, Elise, Violante, Sara, Houten, Sander M, Wevers, Ron A, van Faassen, Martijn, Kema, Ido P, Lepage, Nathalie, Lines, Matthew A, Dyment, David A, Wanders, Ronald JA, Verhoeven-Duif, Nanda, Ekker, Marc, Boycott, Kym M, Friedman, Jan M, Pena, Izabella A, van Karnebeek, Clara DM

المصدر: Brain. 142(3)

مصطلحات موضوعية: Epilepsy, Neurosciences, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Disease Models, Animal, Female, HEK293 Cells, Humans, Male, Phenotype, Proteins, Pyridoxal Phosphate, Pyridoxine, Vitamin B 6, Vitamin B 6 Deficiency, Zebrafish, PLPBP, PROSC, epilepsy, pyridoxine, vitamin B6-responsive epilepsy, Care4Rare Canada Consortium, PLPBP, PROSC, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/235891bk

المؤلفون: Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St-Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D.M., Braakman, Hilde M.H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

المصدر: Journal of Inherited Metabolic Disease. 43(6):1321-1332

مصطلحات موضوعية: epileptic encephalopathy, exome sequencing, GPI, IGD, PIGQ, rare diseases, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences

URL الوصول: https://lup.lub.lu.se/record/6ef070d0-a2d7-4b12-a18c-a9170d2b7094
http://dx.doi.org/10.1002/jimd.12278

المؤلفون: Dyke, Stephanie OM, Linden, Mikael, Lappalainen, Ilkka, De Argila, Jordi Rambla, Carey, Knox, Lloyd, David, Spalding, J Dylan, Cabili, Moran N, Kerry, Giselle, Foreman, Julia, Cutts, Tim, Shabani, Mahsa, Rodriguez, Laura L, Haeussler, Maximilian, Walsh, Brian, Jiang, Xiaoqian, Wang, Shuang, Perrett, Daniel, Boughtwood, Tiffany, Matern, Andreas, Brookes, Anthony J, Cupak, Miro, Fiume, Marc, Pandya, Ravi, Tulchinsky, Ilia, Scollen, Serena, Törnroos, Juha, Das, Samir, Evans, Alan C, Malin, Bradley A, Beck, Stephan, Brenner, Steven E, Nyrönen, Tommi, Blomberg, Niklas, Firth, Helen V, Hurles, Matthew, Philippakis, Anthony A, Rätsch, Gunnar, Brudno, Michael, Boycott, Kym M, Rehm, Heidi L, Baudis, Michael, Sherry, Stephen T, Kato, Kazuto, Knoppers, Bartha M, Baker, Dixie, Flicek, Paul

المصدر: European Journal of Human Genetics. 26(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, 8.3 Policy, ethics, and research governance, Health and social care services research, Generic health relevance, Good Health and Well Being, Access to Information, Genetics, Medical, Genomics, Humans, Information Dissemination, Licensure, Practice Guidelines as Topic, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zb5v4qt
https://escholarship.org/content/qt6zb5v4qt/qt6zb5v4qt.pdf

المؤلفون: Johnstone, Devon L., Thi, Tuyet, Zambonin, Jessica, Kernohan, Kristin D., St-Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

المصدر: Johnstone , D L , Thi , T , Zambonin , J , Kernohan , K D , St-Denis , A , Baratang , N V , Hartley , T , Geraghty , M T , Richer , J , Majewski , J , Bareke , E , Guerin , A , Pendziwiat , M , Pena , L D M , Braakman , H M H , Gripp , K W , Edmondson , A C , He , M , Spillmann , R C , Eklund , E A , Bayat , A , McMillan , H ....

Relation: https://cris.maastrichtuniversity.nl/en/publications/595d8920-8bbf-4e72-8dca-a8e0657c8c0d

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/595d8920-8bbf-4e72-8dca-a8e0657c8c0d
https://doi.org/10.1002/jimd.12362

المؤلفون: Pellerin, David, Danzi, Matt C, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K, Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A, Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J, Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H, Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M, Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G, Lamont, Phillipa J, Saporta, Mario A, Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

المصدر: New England Journal of Medicine , 388 pp. 128-141. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf; https://discovery.ucl.ac.uk/id/eprint/10162059/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf
https://discovery.ucl.ac.uk/id/eprint/10162059/

المؤلفون: Marshall, Aren E., MacDonald, Stella K., Liang, Yijing, Couse, Madeline, Boycott, Kym M., Richer, Julie, Kernohan, Kristin D.

المساهمون: Canadian Institutes of Health Research, Ontario Genomics Institute

المصدر: Molecular Genetics & Genomic Medicine ; volume 11, issue 10 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.2247
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2247

المؤلفون: Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-41651-6
https://www.nature.com/articles/s41467-023-41651-6.pdf
https://www.nature.com/articles/s41467-023-41651-6

المؤلفون: Hartley, Taila, Gillespie, Meredith K., Graham, Ian D., Hayeems, Robin Z., Li, Sheena, Sampson, Margaret, Boycott, Kym M., Potter, Beth K.

المساهمون: Canadian Institutes of Health Research

المصدر: Genetics in Medicine ; volume 25, issue 11, page 100948 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.100948
https://api.elsevier.com/content/article/PII:S1098360023009619?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009619?httpAccept=text/plain

المؤلفون: Venkateswaran, Sunita, Michaud, Jean, Ito, Yoko, Geraghty, Michael, Lewis, Evan C., Ellezam, Benjamin, Boycott, Kym M., Dyment, David A., Kernohan, Kristin D.

المصدر: Movement Disorders; Nov2024, Vol. 39 Issue 11, p2102-2109, 8p

المؤلفون: Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh JS, DeMare, Laura E, Devereau, Andrew D, de Vries, Bert BA, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, Laulederkind, Stanley JF, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke WM, Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius OB, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N

المصدر: Nucleic Acids Research. 45(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Networking and Information Technology R&D (NITRD), Human Genome, 2.6 Resources and infrastructure (aetiology), 4.5 Resources and infrastructure (detection), Generic health relevance, Good Health and Well Being, Algorithms, Biological Ontologies, Computational Biology, Genetic Association Studies, Genomics, Humans, Phenotype, Precision Medicine, Rare Diseases, Software, Translational Research, Biomedical, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2w17n1nt
https://escholarship.org/content/qt2w17n1nt/qt2w17n1nt.pdf

المؤلفون: Huang, Lijia, Vanstone, Megan R, Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A, Dipple, Katrina M, Dobyns, William B, Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P, Goel, Himanshu, Gregersen, Pernille A, Gripp, Karen W, Grix, Art, Guion‐Almeida, Maria‐Leine, Harr, Margaret H, Hudson, Cindy, Hunter, Alasdair GW, Johnson, John, Joss, Shelagh K, Kimball, Amy, Kini, Usha, Kline, Antonie D, Lauzon, Julie, Lildballe, Dorte L, López‐González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M, Morel, Chantal F, Morton, Jenny EV, Pyle, Louise C, Quintero‐Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E, Schönewolf‐Greulich, Bitten, Shears, Deborah J, Silver, Josh, Smith, Amanda C, Temple, I Karen, Center, UCLA Clinical Genomics, de Kamp, Jiddeke M, Dijk, Fleur S, Vandersteen, Anthony M, White, Sue M, Zackai, Elaine H, Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E, Boycott, Kym M, Lines, Matthew A

المصدر: Human Mutation. 37(2)

مصطلحات موضوعية: Pediatric, Congenital Structural Anomalies, Rare Diseases, Genetics, Prevention, Human Genome, Neurosciences, Clinical Research, Dental/Oral and Craniofacial Disease, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Amino Acid Motifs, Databases, Genetic, Gene Expression, Haploinsufficiency, Hearing Loss, Humans, Intellectual Disability, Mandibulofacial Dysostosis, Microcephaly, Models, Molecular, Molecular Sequence Data, Mutation, Penetrance, Peptide Elongation Factors, Phenotype, Protein Structure, Secondary, Protein Structure, Tertiary, RNA Splicing, Ribonucleoprotein, U5 Small Nuclear, Spliceosomes, EFTUD2, mandibulofacial dysostosis with microcephaly, MFDM, mandibulofacial dysostosis Guion-Almeida type, mandibulofacial dysostosis, microcephaly, UCLA Clinical Genomics Center, Care4Rare Canada Consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7bf8s425