المؤلفون: Pehlivan, Davut, Bengtsson, Jesse, Bajikar, Sameer, Grochowski, Christopher, Lun, Ming, Gandhi, Mira, Jolly, Angad, Trostle, Alexander, Harris, Holly, Suter, Bernhard, Aras, Sukru, Ramocki, Melissa, Du, Haowei, Mehaffey, Michele, Park, KyungHee, Wilkey, Ellen, Karakas, Cemal, Eisfeldt, Jesper, Pettersson, Maria, Liu, Lynn, Shinawi, Marwan, Kimonis, Virginia, Wiszniewski, Wojciech, Mckenzie, Kyle, Roser, Timo, Vianna-Morgante, Angela, Cornier, Alberto, Abdelmoity, Ahmed, Hwang, James, Jhangiani, Shalini, Muzny, Donna, Mitani, Tadahiro, Muramatsu, Kazuhiro, Nabatame, Shin, Glaze, Daniel, Fatih, Jawid, Gibbs, Richard, Liu, Zhandong, Lindstrand, Anna, Sedlazeck, Fritz, Lupski, James, Zoghbi, Huda, Carvalho, Claudia

المصدر: Genome Medicine. 16(1)

مصطلحات موضوعية: MECP2 duplication syndrome, Clinical severity, MRXSL, Survival, Tandem duplication, Terminal duplication, Humans, Methyl-CpG-Binding Protein 2, Mental Retardation, X-Linked, Phenotype, Male, DNA Copy Number Variations, Female, Alleles, Gene Duplication, Genetic Heterogeneity, Child, Child, Preschool

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/92g2d2d8
https://escholarship.org/content/qt92g2d2d8/qt92g2d2d8.pdf

المؤلفون: Eisfeldt, Jesper, Ameur, Adam, Lenner, Felix, Berk de Boer, Esmee Ten, Ek, Marlene, Wincent, Josephine, Vaz, Raquel, Ottosson, Jesper, Jonson, Tord, Ivarsson, Sofie, Thunström, Sofia, Topa, Alexandra, Stenberg, Simon, Rohlin, Anna, Sandestig, Anna, Nordling, Margareta, Palmebäck, Pia, Burstedt, Magnus, Nordin, Frida, Stattin, Eva Lena, Sobol, Maria, Baliakas, Panagiotis, Bondeson, Marie Louise, Höijer, Ida, Saether, Kristine Bilgrav, Lovmar, Lovisa, Ehrencrona, Hans, Melin, Malin, Feuk, Lars, Lindstrand, Anna

المصدر: Genome Research. 34(11):1774-1784

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/e0a2fe62-144f-44cb-9cc0-b7f639e6562b
http://dx.doi.org/10.1101/gr.279510.124

المؤلفون: Eisfeldt, Jesper, Higginbotham, Edward J., Lenner, Felix, Howe, Jennifer, Fernandez, Bridget A., Lindstrand, Anna, Scherer, Stephen W., Feuk, Lars

المصدر: Science for Life Laboratory – a national resource center for high–throughput molecular bioscience Genome Research. 34(11):1763-1773

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-546192
https://doi.org/10.1101/gr.279263.124
https://uu.diva-portal.org/smash/get/diva2:1925898/FULLTEXT01.pdf

المؤلفون: Bilgrav Saether, Kristine, Eisfeldt, Jesper, Bengtsson, Jesse D., Lun, Ming Yin, Grochowski, Christopher M., Mahmoud, Medhat, Chao, Hsiao-Tuan, Rosenfeld, Jill A., Liu, Pengfei, Ek, Marlene, Schuy, Jakob, Ameur, Adam, Dai, Hongzheng, Hwang, James Paul, Sedlazeck, Fritz J., Bi, Weimin, Marom, Ronit, Wincent, Josephine, Nordgren, Ann, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: Genome Research. 34(11):1785-1797

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-545645
https://doi.org/10.1101/gr.279346.124

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: Aranda-Guillén, Maribel, Røyrvik, Ellen Christine, Fletcher-Sandersjöö, Sara, Artaza, Haydee, Botusan, Ileana Ruxandra, Grytaas, Marianne A., Hallgren, Åsa, Breivik, Lars, Pettersson, Maria, Jørgensen, Anders P., Lindstrand, Anna, Vogt, Elinor, Husebye, Eystein S., Kämpe, Olle, Bøe Wolff, Anette S., Bensing, Sophie, Johansson, Stefan, Eriksson, Daniel

المصدر: Journal of Internal Medicine. 294(1):96-109

مصطلحات موضوعية: Addison's disease, age-at-onset, autoantibodies, complex inheritance, primary adrenal insufficiency, risk scores

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-507921
https://doi.org/10.1111/joim.13649
https://uu.diva-portal.org/smash/get/diva2:1782857/FULLTEXT01.pdf

المؤلفون: ten Berk de Boer, Esmee, Ameur, Adam, Bunikis, Ignas, Ek, Marlene, Stattin, Eva-Lena, Feuk, Lars, Eisfeldt, Jesper, Lindstrand, Anna

المصدر: Scientific Reports. 14(1)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-543552
https://doi.org/10.1038/s41598-024-59683-3
https://uu.diva-portal.org/smash/get/diva2:1915380/FULLTEXT01.pdf

المؤلفون: Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt-Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik

المصدر: Human Mutation. 43(6):708-716

مصطلحات موضوعية: gene discovery, genomic API, Matchmaker Exchange, matchmaking, rare disease, algorithm, Article, data availability, data integration, e-mail, equipment design, genomic medicine, genotype, human, open source software, patient coding, patient information, undiagnosed disease, genetic association study, genetic predisposition, genetics, information dissemination, procedures, software, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Rare Diseases, Undiagnosed Diseases

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-321868
https://doi.org/10.1002/humu.24358

المؤلفون: Lindstrand, Anna, Ek, Marlene, Kvarnung, Malin, Anderlid, Britt-Marie, Bjoerck, Erik, Carlsten, Jonas, Eisfeldt, Jesper, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjoe, Anna, Helgadottir, Hafdis T., Hellstroem-Pigg, Maritta, Kuchinskaya, Ekaterina, Lagerstedt-Robinson, Kristina, Levin, Lars-Åke, Lieden, Agne, Lindeloef, Hillevi, Malmgren, Helena, Nilsson, Daniel, Svensson, Eva, Paucar, Martin, Sahlin, Ellika, Tesi, Bianca, Tham, Emma, Winberg, Johanna, Winerdal, Max, Wincent, Josephine, Soller, Maria Johansson, Pettersson, Maria, Nordgren, Ann

المصدر: Genetics in Medicine. 24(11):2296-2307

مصطلحات موضوعية: Chromosomal microarray, Clinical diagnostics, FMR1 analysis, Genome sequencing, Intellectual disability

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191398
https://liu.diva-portal.org/smash/get/diva2:1733477/FULLTEXT01.pdf

المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

المصدر: Genome medicine. 13(1)

مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ff2t46d

المؤلفون: Eriksson Lindstrand, Anna, Hansson, Lina, Olsson, Rebecka, Ljung-Djärf, Agneta

المصدر: Creative Education. 7(2):333-348

مصطلحات موضوعية: Social Sciences (5), Educational Sciences (503), Pedagogy (50301), Samhällsvetenskap (5), Utbildningsvetenskap (503), Pedagogik (50301)

وصف الملف: electronic

المؤلفون: Schuy, Jakob, Sæther, Kristine Bilgrav, Lisfeld, Jasmin, Ek, Marlene, Grochowski, Christopher M., Lun, Ming Yin, Hastie, Alex, Rudolph, Susanne, Fuchs, Sigrid, Neveling, Kornelia, Hempel, Maja, Hoischen, Alexander, Pettersson, Maria, Carvalho, Claudia M.B., Eisfeldt, Jesper, Lindstrand, Anna

المصدر: Genetics in Medicine Open ; volume 2, page 101863 ; ISSN 2949-7744

الاتاحة: https://doi.org/10.1016/j.gimo.2024.101863
https://api.elsevier.com/content/article/PII:S2949774424010094?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424010094?httpAccept=text/plain

المؤلفون: Wincent, Josephine, Helgadóttir, Hafdís T., Sergouniotis, Fotios, Salazar Mantero, Angelo, Carvalho, Claudia M. B., Malmgren, Helena, Lindstrand, Anna, Iwarsson, Erik

المساهمون: Karolinska Institutet, Vetenskapsrådet

المصدر: Acta Obstetricia et Gynecologica Scandinavica ; volume 103, issue 8, page 1564-1569 ; ISSN 0001-6349 1600-0412

الاتاحة: http://dx.doi.org/10.1111/aogs.14898
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1111/aogs.14898

المؤلفون: Edsjö, Anders, Lindstrand, Anna, Gisselsson Nord, David, Orvelid-Mölling, Paula, Friedman, Mikaela, Cavelier, Lucia, Johansson, Maria, Ehrencrona, Hans, Fagerqvist, Therese, Strid, Tobias, Lovmar, Lovisa, Jacobsson, Bo, Johansson, Åsa, Engstrand, Lars, Wheelock, Craig E., Sikora, Per, Wirta, Valtteri, Fioretos, Thoas, Rosenquist, Richard

المصدر: Cambridge Prisms: Precision Medicine. 1

مصطلحات موضوعية: Medicin och hälsovetenskap, Hälsovetenskap, Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, Medical and Health Sciences, Health Sciences, Health Care Service and Management, Health Policy and Services and Health Economy

URL الوصول: https://lup.lub.lu.se/record/e2afc57f-87b8-4980-a50b-4bd72a84b2e2
http://dx.doi.org/10.1017/pcm.2023.3

المؤلفون: Saether, Kristine Bilgrav, Nilsson, Daniel, Thonberg, Håkan, Tham, Emma, Ameur, Adam, Eisfeldt, Jesper, Lindstrand, Anna

المصدر: PLOS ONE. 18(7)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-510110
https://doi.org/10.1371/journal.pone.0289346
https://uu.diva-portal.org/smash/get/diva2:1791259/FULLTEXT01.pdf

المؤلفون: Vaz, Raquel, Edwards, Steven, Duenas-Rey, Alfredo, Hofmeister, Wolfgang, Lindstrand, Anna

المصدر: Frontiers in Neuroscience. 17

مصطلحات موضوعية: CTNND2, CRISPR, Cas9, zebrafish, neuronal development, swimming behavior

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-333559
https://doi.org/10.3389/fnins.2023.1205653

المؤلفون: Runheim, Hannes, Pettersson, Maria, Hammarsjo, Anna, Nordgren, Ann, Henriksson, Martin, Lindstrand, Anna, Levin, Lars-Åke, Soller, Maria Johansson

المصدر: Scientific Reports. 13(1)

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-195792
https://liu.diva-portal.org/smash/get/diva2:1775867/FULLTEXT01.pdf

المؤلفون: Eisfeldt, Jesper, Pettersson, Maria, Petri, Anna, Nilsson, Daniel, Feuk, Lars, Lindstrand, Anna

المصدر: Human Genetics. 140(5):775-790

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-450367
https://doi.org/10.1007/s00439-020-02242-3
https://uu.diva-portal.org/smash/get/diva2:1585091/FULLTEXT01.pdf

المؤلفون: Fioretos, Thoas, Wirta, Valtteri, Cavelier, Lucia, Berglund, Eva, Friedman, Mikaela, Akhras, Michael, Botling, Johan, Ehrencrona, Hans, Engstrand, Lars, Helenius, Gisela, 1973, Fagerqvist, Therese, Gisselsson, David, Gruvberger-Saal, Sofia, Gyllensten, Ulf, Heidenblad, Markus, Höglund, Kina, Jacobsson, Bo, Johansson, Maria, Johansson, Åsa, Soller, Maria Johansson, Landström, Maréne, Larsson, Pär, Levin, Lars-Åke, Lindstrand, Anna, Lovmar, Lovisa, Lyander, Anna, Melin, Malin, Nordgren, Ann, Nordmark, Gunnel, Mölling, Paula, 1971, Palmqvist, Lars, Palmqvist, Richard, Repsilber, Dirk, 1971, Sikora, Per, Stenmark, Bianca, 1987, Söderkvist, Peter, Stranneheim, Henrik, Strid, Tobias, Wheelock, Craig E., Wadelius, Mia, Wedell, Anna, Edsjö, Anders, Rosenquist, Richard

المصدر: Nature Medicine. 28(10):1980-1982

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-101431
https://doi.org/10.1038/s41591-022-01963-4

المؤلفون: Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, Eichler, Evan E

المصدر: Nature Communications. 11(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Commerce, Management, Tourism and Services, SPARK Consortium

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5450h9c4
https://escholarship.org/content/qt5450h9c4/qt5450h9c4.pdf