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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: Sadleir, Lynette G, Mountier, Emily I, Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A, DDD Study, Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C, Murali, Hema R, Carvill, Gemma, Myers, Candace T, Mefford, Heather C, Scheffer, Ingrid E
مصطلحات موضوعية: Age of Onset, Brain, Child, Preschool, Developmental Disabilities, Epilepsies, Myoclonic, Epilepsy, Female, Humans, Hyperkinesis, Male, Mutation, Missense, NAV1.1 Voltage-Gated Sodium Channel, Phenotype
وصف الملف: Print-Electronic; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.48933Test
https://www.repository.cam.ac.uk/handle/1810/301865Test -
3دورية أكاديمية
المؤلفون: Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E., Bevan, A. Paul, Dixit, Abhijit, Pridham, Abigail, Tivey, Adrian R., Sarkar, Ajoy, Donaldson, Alan, Fryer, Alan, Sifrim, Alejandro, Henderson, Alex, Magee, Alex, Duncan, Alexis, Kraus, Alison, Male, Alison, Ross, Alison, Collins, Amanda, Saggar, Anand, Coates, Andrea, Nemeth, Andrea, Fry, Andrew, Green, Andrew, Jackson, Andrew, Norman, Andrew, Barnicoat, Angela, Brady, Angela, Douglas, Angela, Clarke, Angus, Dobbie, Angus, Selby, Ann, Middleton, Anna, Lampe, Anne, Seller, Anneke, Procter, Annie, Evans, Karenza, Vandersteen, Anthony, Weber, Astrid
المصدر: Neurology ; volume 89, issue 10, page 1035-1042 ; ISSN 0028-3878 1526-632X
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4
المؤلفون: Sadleir, Lynette G, Mountier, Emily I, Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A, DDD Study, Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C, Murali, Hema R, Carvill, Gemma, Myers, Candace T, Mefford, Heather C, Scheffer, Ingrid E
المساهمون: Mandelstam, Simone [0000-0001-6287-0819], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Male, Epilepsy, Developmental Disabilities, Mutation, Missense, Brain, Epilepsies, Myoclonic, Hyperkinesis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Child, Preschool, Humans, Female, Age of Onset, Child
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::393983a966a6bb166a547fa63acad30aTest
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5دورية أكاديمية
المؤلفون: Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E., DDD Study
المصدر: Neurology; 9/5/2017, Vol. 89 Issue 10, p1035-1042, 8p, 1 Black and White Photograph, 2 Charts
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6دورية
المؤلفون: Sadleir, Lynette G., Mountier, Emily I., Gill, Deepak, Davis, Suzanne, Joshi, Charuta, DeVile, Catherine, Kurian, Manju A., Mandelstam, Simone, Wirrell, Elaine, Nickels, Katherine C., Murali, Hema R., Carvill, Gemma, Myers, Candace T., Mefford, Heather C., Scheffer, Ingrid E.
المصدر: Neurology (Ovid); September 2017, Vol. 89 Issue: 10 p1035-1042, 8p