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1دورية أكاديمية
المؤلفون: Graifman, Jordana L., Lippa, Natalie C., Mulhern, Maureen S., Bergner, Amanda L., Sands, Tristan T.
المصدر: Epilepsia ; volume 64, issue 4, page 986-997 ; ISSN 0013-9580 1528-1167
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2دورية 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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3دورية أكاديمية
المؤلفون: Kushary, Sulagna Tina, Revah-Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio-Míguez, Marta, Palomares-Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A.L., Sacco, Oliviero, Santen, Gijs W.E., Santos-Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame
المصدر: Kushary , S T , Revah-Politi , A , Barua , S , Ganapathi , M , Accogli , A , Aggarwal , V , Brunetti-Pierri , N , Cappuccio , G , Capra , V , Fagerberg , C R , Gazdagh , G , Guzman , E , Hadonou , M , Harrison , V , Havelund , K , Iancu , D , Kraus , A , Lippa , N C , Mansukhani , M , McBrian , D , McEntagart , M , Pacio-Míguez , M , Palomares-Bralo , M , Pottinger , C , ....
مصطلحات موضوعية: genotype–phenotype correlation, multisystemic disorder, SON, whole exome sequencing
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/559fc1ee-78f4-4efd-80f8-0f27a8a04722Test
الإتاحة: https://doi.org/10.1002/ajmg.a.62445Test
https://portal.findresearcher.sdu.dk/da/publications/559fc1ee-78f4-4efd-80f8-0f27a8a04722Test
https://findresearcher.sdu.dk/ws/files/193320004/ajmg.a.62445.pdfTest -
4دورية أكاديمية
المصدر: BMC Neurology ; volume 21, issue 1 ; ISSN 1471-2377
مصطلحات موضوعية: Neurology (clinical), General Medicine
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5دورية أكاديمية
المؤلفون: Verberne, Eline A., Goh, Shuxiang, England, Jade, van Ginkel, Manon, Rafael-Croes, Louise, Maas, Saskia, Polstra, Abeltje, Zarate, Yuri A., Bosanko, Katherine A., Pechter, Kieran B., Bedoukian, Emma, Izumi, Kosuke, Chaudhry, Ayeshah, Robin, Nathaniel H., Boothe, Megan, Lippa, Natalie C., Aggarwal, Vimla, De Vivo, Darryl C., Lehman, Anna, Study, Causes, Stockler, Sylvia, Bruel, Ange-Line, Isidor, Bertrand, Lemons, Jennifer, Rodriguez-Buritica, David F., Richmond, Christopher M., Stark, Zornitza, Agrawal, Pankaj B., Kooy, R.Frank, Meuwissen, Marije E.C., Koolen, David A., Pfundt, Rolf, Lieden, Agne, Anderlid, Britt-Marie, Glatz, Dagmar, Mannens, Marcel M.A.M., Bakshi, Madhura, Mallette, Frédérick A., van Haelst, Mieke M., Campeau, Philippe M.
المصدر: Genetics in Medicine ; volume 23, issue 2, page 374-383 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-020-00992-zTest
https://www.nature.com/articles/s41436-020-00992-z.pdfTest
https://www.nature.com/articles/s41436-020-00992-zTest
https://api.elsevier.com/content/article/PII:S1098360021025521?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021025521?httpAccept=text/plainTest -
6دورية 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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7دورية أكاديمية
المؤلفون: Motelow, Joshua E., Lippa, Natalie C., Hostyk, Joseph, Feldman, Evin, Nelligan, Matthew, Ren, Zhong, Alkelai, Anna, Milner, Joshua D., Gharavi, Ali G., Tang, Yingying, Goldstein, David B., Kernie, Steven G.
المصدر: JAMA Network Open ; volume 5, issue 10, page e2239122 ; ISSN 2574-3805
الإتاحة: https://doi.org/10.1001/jamanetworkopen.2022.39122Test
https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2797908/motelow_2022_oi_221108_1666297496.72744.pdfTest -
8دورية أكاديمية
المؤلفون: Lippa, Natalie C., Sanderson, Saskia C.
المصدر: Human Heredity, 2013 Jan 01. 75(2/4), 186-203.
الوصول الحر: https://www.jstor.org/stable/48513533Test
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9دورية أكاديمية
المؤلفون: Lippa, Natalie C., Sanderson, Saskia C.
المصدر: Obesity ; volume 20, issue 12, page 2367-2376 ; ISSN 1930-7381 1930-739X
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10دورية أكاديمية
المؤلفون: Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle
المصدر: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3740-3753, 14p