-
1دورية أكاديمية
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
الوصول الحر: https://escholarship.org/uc/item/9ff2t46dTest
-
2رسالة جامعية
المؤلفون: Lopez-Rangel, Elena
وصف الملف: 2999496 bytes; application/pdf
الإتاحة: http://hdl.handle.net/2429/2422Test
-
3دورية أكاديمية
المؤلفون: Gillentine, Madelyn A., Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Vissers, Lisenka E. L. M., 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, Kjærsgaard Hansen, Lars, 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, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Manace Benman, L., Mckee, Shane, Mirzaa, Ghayda M., Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Valenzuela Palafoll, Irene, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
مصطلحات موضوعية: ddc:610
وصف الملف: application/pdf
العلاقة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/17733Test; urn:nbn:de:bvb:29-opus4-177339; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-177339Test; https://doi.org/10.1186/s13073-021-00870-6Test; https://opus4.kobv.de/opus4-fau/files/17733/s13073-021-00870-6.pdfTest
الإتاحة: https://doi.org/10.1186/s13073-021-00870-6Test
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/17733Test
https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-177339Test
https://opus4.kobv.de/opus4-fau/files/17733/s13073-021-00870-6.pdfTest -
4دورية أكاديمية
المؤلفون: Lu, Henry Y., Sertori, Robert, Contreras, Alejandra V., Hamer, Mark, Messing, Melina, Del Bel, Kate L., Lopez-Rangel, Elena, Chan, Edmond S., Rehmus, Wingfield, Milner, Joshua D., McNagny, Kelly M., Lehman, Anna, Wiest, David L., Turvey, Stuart E.
المساهمون: Canadian Institutes of Health Research, Genome British Columbia, Rare Disease Foundation, BC Children’s Hospital Foundation, Canada Research Chairs, Killam Trusts, National Institutes of Health
المصدر: Frontiers in Immunology ; volume 12 ; ISSN 1664-3224
-
5دورية أكاديمية
المؤلفون: Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B, Buerki, Sarah E, Evans, Daniel M, Toyota, Eric B, Boelman, Cyrus, Huh, Linda L, Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H, Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D M, Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I, Nelson, Tanya N, Bolbocean, Corneliu, Connolly, Mary B, Farrer, Matthew J
المصدر: Demos, Michelle; Guella, Ilaria; DeGuzman, Conrado; McKenzie, Marna B; Buerki, Sarah E; Evans, Daniel M; Toyota, Eric B; Boelman, Cyrus; Huh, Linda L; Datta, Anita; Michoulas, Aspasia; Selby, Kathryn; Bjornson, Bruce H; Horvath, Gabriella; Lopez-Rangel, Elena; van Karnebeek, Clara D M; Salvarinova, Ramona; Slade, Erin; Eydoux, Patrice; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Bolbocean, Corneliu; Connolly, Mary B; Farrer, Matthew J (2019). Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy. Frontiers in Neurology:10:434.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/181899/1/fneur-10-00434.pdfTest; info:pmid/31164858; urn:issn:1664-2295
الإتاحة: https://doi.org/10.5167/uzh-18189910.3389/fneur.2019.00434Test
https://www.zora.uzh.ch/id/eprint/181899Test/
https://www.zora.uzh.ch/id/eprint/181899/1/fneur-10-00434.pdfTest -
6دورية أكاديمية
المؤلفون: Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker-Touw, Catharina M. L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C.
المصدر: CAUSES Study , EuroEPINOMICS-RES-MAE Working Grp , Mulhern , M S , Stumpel , C , Stong , N , Brunner , H G , Bier , L , Lippa , N , Riviello , J , Rouhl , R P W , Kempers , M , Pfundt , R , Stegmann , A P A , Kukolich , M K , Telegrafi , A , Lehman , A , Lopez-Rangel , E , Houcinat , N , Barth , M , den Hollander , N , Hoffer , M J V , Weckhuysen , S , Roovers , ....
مصطلحات موضوعية: DE-NOVO MUTATIONS, NEUROBEACHIN, AUTISM, FRAMEWORK, SPECTRUM, DELETION, PATIENT
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/ana.25350Test
https://hdl.handle.net/11370/156df0a8-8a8d-4d34-ae95-b8d35eff61f3Test
https://research.rug.nl/en/publications/156df0a8-8a8d-4d34-ae95-b8d35eff61f3Test
https://pure.rug.nl/ws/files/76462280/NBEA.pdfTest -
7دورية أكاديمية
المؤلفون: Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djémié, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker-Touw, Catharina M. L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
المساهمون: CAUSES Study, EuroEPINOMICS-RES-MAE Working Grp
المصدر: 0364-5134 ; Annals of neurology
مصطلحات موضوعية: Human medicine
وصف الملف: pdf
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000450819800015
-
8
المؤلفون: Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, 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, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, 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, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
مصطلحات موضوعية: Data_FILES
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9fc3435ebdf93b1330183bb3432970Test
-
9
المؤلفون: Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, 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, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, 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, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0981a81790c514a689c601a4b29ce74fTest
-
10دورية أكاديمية
المؤلفون: Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.
المساهمون: Canadian Institutes of Health Research
المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 181, issue 4, page 532-547 ; ISSN 1552-4868 1552-4876
النص الكامل