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

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

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

المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest

الإتاحة: https://doi.org/10.1172/JCI171235Test
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest
https://pure.eur.nl/ws/files/126117603/Spliceosome_malfunction_causes_neurodevelopmental_disorders_with_overlapping_features.pdfTest
http://www.scopus.com/inward/record.url?scp=85181539861&partnerID=8YFLogxKTest

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

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.ebiom.2024.105076Test
https://api.elsevier.com/content/article/PII:S2352396424001117?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352396424001117?httpAccept=text/plainTest

المؤلفون: Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O

المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 111 (2012)

مصطلحات موضوعية: Albinism, Exome sequencing, G6PC3 protein, Inflammatory bowel disease, Oculocutaneous albinism type 4 (OCA4), Neutropenia, Severe congenital neutropenia type 4 (SCN4), SLC45A2 protein, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/13/111Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/0b204c94af4c404988610ac3b83d6484Test

المؤلفون: McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, MacKenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 90 (2012)

مصطلحات موضوعية: Polyneuropathy, Sensorineural hearing loss, Retinitis pigmentosa, Peroxisomes, Cerebellar ataxia, HSD17B4, Medicine

وصف الملف: electronic resource

العلاقة: http://www.ojrd.com/content/7/1/90Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/35d3ec0c604b410e8f3bdf0a9f806ff4Test

المؤلفون: Huang Lijia, Chardon Jodi, Carter Melissa T, Friend Kathie L, Dudding Tracy E, Schwartzentruber Jeremy, Zou Ruobing, Schofield Peter W, Douglas Stuart, Bulman Dennis E, Boycott Kym M

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 67 (2012)

مصطلحات موضوعية: Congenital nonprogressive spinocerebellar ataxia, Spinocerebellar ataxia type 29, Cerebellar atrophy, ITPR1, Gene identification, Medicine

وصف الملف: electronic resource

العلاقة: http://www.ojrd.com/content/7/1/67Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/1856d88815c24344bdef169fba70ce65Test

المؤلفون: Beaulieu Chandree L, Samuels Mark E, Ekins Sean, McMaster Christopher R, Edwards Aled M, Krainer Adrian R, Hicks Geoffrey G, Frey Brendan J, Boycott Kym M, MacKenzie Alex E

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 39 (2012)

مصطلحات موضوعية: Orphan disease therapy, Preclinical drug development, Generalizable screening methods, Translational toolbox, Medicine

وصف الملف: electronic resource

العلاقة: http://www.ojrd.com/content/7/1/39Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2528416a32214db7a73f1442198df527Test

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

الوصول الحر: https://escholarship.org/uc/item/9js9j27mTest

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

الوصول الحر: https://lup.lub.lu.se/record/6ef070d0-a2d7-4b12-a18c-a9170d2b7094Test
http://dx.doi.org/10.1002/jimd.12278Test

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

الوصول الحر: https://escholarship.org/uc/item/4gq9c79vTest