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

الإتاحة: https://doi.org/10.1111/epi.17534Test

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

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

المؤلفون: Lippa, Natalie C., Barua, Subit, Aggarwal, Vimla, Pereira, Elaine, Bain, Jennifer M.

المصدر: BMC Neurology ; volume 21, issue 1 ; ISSN 1471-2377

مصطلحات موضوعية: Neurology (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s12883-021-02380-9Test

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

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

العلاقة: https://doi.org/10.7916/d8-bwbc-jm14Test

الإتاحة: https://doi.org/10.7916/d8-bwbc-jm14Test

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

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

المؤلفون: Lippa, Natalie C., Sanderson, Saskia C.

المصدر: Obesity ; volume 20, issue 12, page 2367-2376 ; ISSN 1930-7381 1930-739X

الإتاحة: https://doi.org/10.1038/oby.2012.144Test

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