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1دورية أكاديمية
المؤلفون: Myers, Candace T, Stong, Nicholas, Mountier, Emily I, Helbig, Katherine L, Freytag, Saskia, Sullivan, Joseph E, Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N, Rezazadeh, Arezoo, Regan, Brigid M, Oliver, Karen L, Ernst, Michelle E, Lippa, Natalie C, Mulhern, Maureen S, Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M, Bird, Lynne M, Bahlo, Melanie, Berkovic, Samuel F, Lowenstein, Daniel H, Scheffer, Ingrid E, Sadleir, Lynette G, Goldstein, David B, Mefford, Heather C, Heinzen, Erin L
المصدر: American journal of human genetics. 101(4)
مصطلحات موضوعية: Humans, Epilepsy, Spasms, Infantile, Calcineurin, Severity of Illness Index, Cohort Studies, Sequence Analysis, DNA, Synaptic Transmission, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Young Adult, Exome, Lennox Gastaut Syndrome, Neurodevelopmental Disorders, PPP3CA, calcineurin, de novo mutation, developmental and epileptic encephalopathy, epilepsy, Brain Disorders, Neurodegenerative, Pediatric, Genetics, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/16r971fqTest
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2دورية أكاديمية
المؤلفون: Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S.C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, van Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M.S., Madan-Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz-Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla
المصدر: Ernst , M E , Baugh , E H , Thomas , A , Bier , L , Lippa , N , Stong , N , Mulhern , M S , Kushary , S , Akman , C I , Heinzen , E L , Yeh , R , Bi , W , Hanchard , N A , Burrage , L C , Leduc , M S , Chong , J S C , Bend , R , Lyons , M J , Lee , J A , Suwannarat , P , Brilstra , E , Simon , M ....
الإتاحة: https://doi.org/10.1111/epi.16931Test
https://pure.eur.nl/en/publications/397106a8-1886-4437-9d53-67a1bb04cf25Test
http://www.scopus.com/inward/record.url?scp=85106479938&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9189716Test/ -
3دورية أكاديمية
المؤلفون: Bergner, Amanda L., Ecker, Lindsey Alico, Ernst, Michelle E., Goelz, Monika Zak, Habermann, Kristina, Karger, Lisa, Zinberg, Randi E.
المصدر: Journal of Genetic Counseling ; volume 30, issue 4, page 1057-1068 ; ISSN 1059-7700 1573-3599
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4دورية أكاديمية
المؤلفون: White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.
المساهمون: National Human Genome Research Institute, Ontario Genomics Institute, Estonian Research Competency Council
المصدر: The American Journal of Human Genetics ; volume 108, issue 4, page 749-756 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.03.007Test
https://api.elsevier.com/content/article/PII:S0002929721000914?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929721000914?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Mirzaa, Ghayda M., Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle
المساهمون: NARSAD New Investigator Award, Peterborough K.M. Hunter Charitable Foundation Graduate Scholarship, the Agence de la Biomédecine and the CREGEMES, the Canadian Institutes of Health Research, National Natural Science Foundation of China, National Institute of Neurological Disorders and Stroke
المصدر: Genetics in Medicine ; volume 22, issue 3, page 538-546 ; ISSN 1098-3600
الإتاحة: https://doi.org/10.1038/s41436-019-0693-9Test
http://www.nature.com/articles/s41436-019-0693-9.pdfTest
http://www.nature.com/articles/s41436-019-0693-9Test
https://api.elsevier.com/content/article/PII:S1098360021012570?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021012570?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Pereira, Elaine M., Ahimaz, Priyanka, Andrews, Carli, Anyane-Yeboa, Kwame, Arsov, Todor, Berger, Sara M., Chilton, Ilana, Cory, Diana M., Chung, Wendy K., Dergham, Katia R., Disco, Michele M., Ernst, Michelle E., Forman, Tamar, Galloway, Stephanie, Geltzeiler, Alexa R., Giordano, Jessica L., Griffin, Emily, Guzman, Edwin, Harkavy, Nina, Hernan, Rebecca, Hetzler, Anah K., Iglesias, Alejandro, Kakar, Rupinder, Kentros, Catherine, Khonje, Thandiwe C., Koval, Carrie, Levinson, Elana, Robinson, Scott, Ross, Meredith J., Sadeque-Iqbal, Fatema, Spiegel, Erica, Spitz, Elana, Wapner, Ronald J.
المصدر: Genetics in Medicine ; volume 22, issue 9, page 1467-1469 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-020-0857-7Test
http://www.nature.com/articles/s41436-020-0857-7.pdfTest
http://www.nature.com/articles/s41436-020-0857-7Test
https://api.elsevier.com/content/article/PII:S1098360021007267?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021007267?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Rasouly, Hila Milo, Wynn, Julia, Marasa, Maddalena, Reingold, Rachel, Chatterjee, Debanjana, Kapoor, Sheena, Piva, Stacy E., Kil, Byum Hee, Mu, Xueru, Alvarez, Maria C., Nestor, Jordan Gabriela, Mehl, Karla, Revah-Politi, Anya, Lippa, Natalie C., Ernst, Michelle E., Bier, Louise E., Espinal, Aileen, Haser, Bianca, Sinha, Anoushka, Halim, Ian, Fasel, David, Cuneo, Nicole, Thompson, Jacqueline Jamir, Verbitsky, Miguel, Cohn, Elizabeth Gross, Goldman, Jill, Marder, Karen, Klitzman, Robert L., Orjuela, Manuela A., So, Yat S., Fedotov, Alexander, Crew, Katherine, Kiryluk, Krzysztof, Appelbaum, Paul S., Weng, Chunhua, Siegel, Karolynn, Gharavi, Ali G., Chung, Wendy K.
مصطلحات موضوعية: Genetics—Research, Research--Moral and ethical aspects, Multiculturalism, Personalized medicine, Medicine--Research
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8دورية أكاديمية
المؤلفون: Milo Rasouly, Hila, Wynn, Julia, Marasa, Maddalena, Reingold, Rachel, Chatterjee, Debanjana, Kapoor, Sheena, Piva, Stacy, Kil, Byum Hee, Mu, Xueru, Alvarez, Maria, Nestor, Jordan, Mehl, Karla, Revah-Politi, Anya, Lippa, Natalie, Ernst, Michelle E., Bier, Louise, Espinal, Aileen, Haser, Bianca, Sinha, Anoushka, Halim, Ian, Fasel, David, Cuneo, Nicole, Thompson, Jacqueline J., Verbitsky, Miguel, Cohn, Elizabeth G., Goldman, Jill, Marder, Karen, Klitzman, Robert L., Orjuela, Manuela A., So, Yat S., Fedotov, Alex, Crew, Katherine D., Kiryluk, Krzysztof, Appelbaum, Paul S., Weng, Chunhua, Siegel, Karolynn, Gharavi, Ali G., Chung, Wendy K.
المساهمون: National Human Genome Research Institute
المصدر: Genetics in Medicine ; volume 21, issue 10, page 2371-2380 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-019-0497-yTest
http://www.nature.com/articles/s41436-019-0497-y.pdfTest
http://www.nature.com/articles/s41436-019-0497-yTest
https://api.elsevier.com/content/article/PII:S1098360021045007?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021045007?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Rasouly, Hila Milo, Wynn, Julia, Marasa, Maddalena, Reingold, Rachel, Chatterjee, Debanjana, Kapoor, Sheena, Piva, Stacy, Kil, Byum Hee, Mu, Xueru, Alvarez, Maria, Nestor, Jordan, Mehl, Karla, Revah-Politi, Anya, Lippa, Natalie, Ernst, Michelle E., Bier, Louise, Espinal, Aileen, Haser, Bianca, Sinha, Anoushka, Halim, Ian, Fasel, David, Cuneo, Nicole, Thompson, Jacqueline J., Verbitsky, Miguel, Cohn, Elizabeth G., Goldman, Jill, Marder, Karen, Klitzman, Robert L., Orjuela, Manuela A., So, Yat S., Fedotov, Alex, Crew, Katherine D., Kiryluk, Krzysztof, Appelbaum, Paul S., Weng, Chunhua, Siegel, Karolynn, Gharavi, Ali G., Chung, Wendy K.
المصدر: Genetics in Medicine ; volume 21, issue 10, page 2407 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-019-0528-8Test
http://www.nature.com/articles/s41436-019-0528-8.pdfTest
http://www.nature.com/articles/s41436-019-0528-8Test
https://api.elsevier.com/content/article/PII:S1098360021045147?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021045147?httpAccept=text/plainTest -
10دورية أكاديمية
