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1Academic Journal
المؤلفون: Abram L Wagner, Lu Xia, Aparna Ghosh, Sandip Datta, Priyamvada Pandey, Sujay Santra, Sharmila Chattopadhyay, Uddip Nandi, Tanusree Mazumder, Sucheta Joshi, Joyojeet Pal, Bhramar Mukherjee
المصدر: PLoS ONE, Vol 13, Iss 6, p e0199607 (2018)
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Mahmoud Koko, Joshua E Motelow, Kate E Stanley, Dheeraj R Bobbili, Ryan S Dhindsa, Patrick May, Brian K Alldredge, Andrew S Allen, Janine Altmüller, Dina Amrom, Eva Andermann, Pauls Auce, Andreja Avbersek, Stéphanie Baulac, Jocelyn F Bautista, Felicitas Becker, Susannah T Bellows, Bianca Berghuis, Samuel F Berkovic, Judith Bluvstein, Alex Boro, Joshua Bridgers, Rosemary Burgess, Hande Caglayan, Gregory D Cascino, Gianpiero L Cavalleri, Seo Kyung Chung, Cécile Cieuta-Walti, Véronique Cloutier, Damian Consalvo, Patrick Cossette, Patricia Crumrine, Norman Delanty, Chantal Depondt, Richard Desbiens, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Kate Everett, Miguel Fiol, Nathan B Fountain, Ben Francis, Jacqueline French, Catharine Freyer, Daniel Friedman, Antonio Gambardella, Eric B Geller, Simon Girard, Tracy Glauser, Simon Glynn, David B Goldstein, Micheline Gravel, Kevin Haas, Sheryl R Haut, Erin L Heinzen, Ingo Helbig, Michael S Hildebrand, Michael R Johnson, Andrea Jorgensen, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Karl M Klein, Robert C Knowlton, Bobby PC Koeleman, Eric H Kossoff, Roland Krause, Martin Krenn, Wolfram S Kunz, Ruben Kuzniecky, Sarah R Langley, Eric LeGuern, Anna Elina Lehesjoki, Holger Lerche, Costin Leu, Anne Lortie, Daniel H Lowenstein, Anthony G Marson, Caroline Mebane, Heather C Mefford, Caroline Meloche, Claudia Moreau, Paul V Motika, Hiltrud Muhle, Rikke S Møller, Rima Nabbout, Dang K Nguyen, Marina Nikanorova, Edward J Novotny, Peter Nürnberg, Ruth Ottman, Terence J O’Brien, Juliann M Paolicchi, Jack M Parent, Kristen Park, Sarah Peter, Steven Petrou, Slavé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Lynette G Sadleir, Josemir W Sander, Thomas Sander, Ingrid E Scheffer, Julian Schubert, Renée A Shellhaas, Elliott H Sherr, Jerry J Shih, Shlomo Shinnar, Graeme J Sills, Rani K Singh, Auli Siren, Joseph Sirven, Sanjay M Sisodiya, Michael C Smith, Anja CM Sonsma, Pasquale Striano, Joseph Sullivan, Liu Lin Thio, Rhys H Thomas, Anu Venkat, Eileen PG Vining, Gretchen K Von Allmen, Quanli Wang, Yvonne G Weber, Sarah Weckhuysen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer, Stefan Wolking, Federico Zara, Fritz Zimprich
مصطلحات موضوعية: Clinical sciences not elsewhere classified, Neurosciences not elsewhere classified, familial epilepsy, GABAA receptors, GABRG2, GGE, sporadic epilepsy, 3202 Clinical sciences, 3209 Neurosciences
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المؤلفون: Peter, Widdess-Walsh, Dennis, Dlugos, Robyn, Fahlstrom, Sucheta, Joshi, Renée, Shellhaas, Alex, Boro, Joseph, Sullivan, Eric, Geller, Melodie, Winawer
المصدر: Epilepsia. 54:1898-1904
مصطلحات موضوعية: Adult, Male, Parents, medicine.medical_specialty, Pediatrics, Adolescent, Genotype, Electroencephalography, Young Adult, Epilepsy, Epilepsy Phenome/Genome Project, Intellectual Disability, medicine, Humans, Age of Onset, Young adult, Child, Psychiatry, medicine.diagnostic_test, Genome, Human, Lennox Gastaut Syndrome, business.industry, Australia, Syndrome, Middle Aged, medicine.disease, United States, Phenotype, Neurology, Child, Preschool, Epilepsy syndromes, Etiology, Female, Neurology (clinical), Age of onset, business, Spasms, Infantile, Lennox–Gastaut syndrome
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المؤلفون: Andrew S Allen, Susannah T Bellows, Samuel F Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty, Dennis Dlugos, Michael P Epstein, Catharine Freyer, David B Goldstein, Erin L Heinzen, Michael S Hildebrand, Michael R Johnson, Ruben Kuzniecky, Daniel H Lowenstein, Anthony G Marson, Richard Mayeux, Caroline Mebane, Heather C Mefford, Terence J O'Brien, Ruth Ottman, Steven Petrou, Slavgé Petrovski, William O Pickrell, Annapurna Poduri, Rodney A Radtke, Mark I Rees, Brigid M Regan, Zhong Ren, Ingrid E Scheffer, Graeme J Sills, Rhys H Thomas, Quanli Wang, Bassel Abou-Khalil, Brian K Alldredge, Dina Amrom, Eva Andermann, Frederick Andermann, Jocelyn F. Bautista, Judith Bluvstein, Alex Boro, Gregory D Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Miguel Fiol, Nathan B Fountain, Jacqueline French, Daniel Friedman, Eric B Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R Haut, Jean Hayward, Sandra L Helmers, Sucheta Joshi, Andres Kanner, Heidi E Kirsch, Robert C Knowlton, Eric H Kossoff, Rachel Kuperman, Paul V Motika, Edward J Novotny, Juliann M Paolicchi, Jack M Parent, Kristen Park, Lynette G Sadleir, Renée A. Shellhaas, Elliott H Sherr, Jerry J. Shih, Shlomo Shinnar, Rani K Singh, Joseph Sirven, Michael C Smith, Joseph Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G Vining, Gretchen K Von Allmen, Judith L Weisenberg, Peter Widdess-Walsh, Melodie R Winawer
المساهمون: Imperial College Healthcare NHS Trust- BRC Funding
المصدر: The Lancet. Neurology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Population, Disease, Bioinformatics, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Epilepsy Phenome/Genome Project, Genetic variation, medicine, Humans, Exome, Genetic Predisposition to Disease, education, Psychiatry, education.field_of_study, Neurology & Neurosurgery, business.industry, Genetic Variation, 1103 Clinical Sciences, Sequence Analysis, DNA, medicine.disease, Comorbidity, R1, 030104 developmental biology, Case-Control Studies, Epilepsy syndromes, Epilepsy, Generalized, Epilepsies, Partial, Neurology (clinical), 1109 Neurosciences, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Silke Appenzeller, Rudi Balling, Nina Barisic, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig Gormley, Renzo Guerrini, Ingo Helbig, Helle Hjalgrim, Dorota Hoffman-Zacharska, Johanna Jähn, Karl Martin Klein, Bobby Koeleman, Vladimir Komarek, Roland Krause, Gregor Kuhlenbäumer, Eric Leguern, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Rikke S. Møller, Hiltrud Muhle, Deb Pal, Aarno Palotie, Manuela Pendziwiat, Angela Robbiano, Filip Roelens, Felix Rosenow, Kaja Selmer, Jose M. Serratosa, Sanjay Sisodiya, Ulrich Stephani, Katalin Sterbova, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Yvonne Weber, Sarah Weckhuysen, Federico Zara, Bassel Abou-Khalil, Brian K. Alldredge, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F. Bautista, Samuel F. Berkovic, Judith Bluvstein, Alex Boro, Gregory Cascino, Damian Consalvo, Patricia Crumrine, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Miguel Fiol, Nathan B. Fountain, Jacqueline French, Daniel Friedman, Eric B. Geller, Tracy Glauser, Simon Glynn, Kevin Haas, Sheryl R. Haut, Jean Hayward, Sandra L. Helmers, Sucheta Joshi, Andres Kanner, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rachel Kuperman, Ruben Kuzniecky, Daniel H. Lowenstein, Shannon M. McGuire, Paul V. Motika, Edward J. Novotny, Ruth Ottman, Juliann M. Paolicchi, Jack Parent, Kristen Park, Annapurna Poduri, Lynette Sadleir, Ingrid E. Scheffer, Renée A. Shellhaas, Elliott Sherr, Jerry J. Shih, Rani Singh, Joseph Sirven, Michael C. Smith, Joe Sullivan, Liu Lin Thio, Anu Venkat, Eileen P.G. Vining, Gretchen K. Von Allmen, Judith L. Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer, Andrew S. Allen, Patrick Cossette, Norman Delanty, Evan E. Eichler, David B. Goldstein, Yujun Han, Erin L. Heinzen, Michael R. Johnson, Anthony G. Marson, Heather C. Mefford, Sahar Esmaeeli Nieh, Terence J. O’Brien, Stephen Petrou, Slavé Petrovski, Elizabeth K. Ruzzo
المساهمون: Neuroscience Center, Research Programs Unit, Department of Medical and Clinical Genetics, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, Epi4K Consortium
المصدر: The American journal of human genetics
Møller, R S, EuroEPINOMICS RES Consortium, Epilepsy Phenome/Genome Project & Epi4K Consortium 2014, ' De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies ', American Journal of Human Genetics, vol. 95, no. 4, pp. 360-370 . https://doi.org/10.1016/j.ajhg.2014.08.013مصطلحات موضوعية: 0301 basic medicine, Male, Proband, INTELLECTUAL DISABILITY, Type I, Bioinformatics, medicine.disease_cause, Infantile, Synaptic Transmission, Spasms, Cohort Studies, Epilepsy, 0302 clinical medicine, Receptors, SCHIZOPHRENIA, STXBP1, Exome, Gene Regulatory Networks, Protein Interaction Maps, Dynamin I, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, Medicine (all), Genome project, Fatty Acid Synthase, Type I, Fatty Acid Synthase, Female, APHASIA, Spasms, Infantile, DYNAMIN-1, EPILEPSIES, ENDOCYTOSIS, Population, SPECTRUM DISORDERS, Phenome, Neurotransmission, Biology, GNAO1, Article, 03 medical and health sciences, GRIN2A MUTATIONS, medicine, Humans, AUTISM, Infant, Newborn, Lennox Gastaut Syndrome, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, education, Gene, De novo mutations, 030304 developmental biology, GABA-B, 3112 Neurosciences, Infant, Correction, Newborn, medicine.disease, Human genetics, 030104 developmental biology, DNM1, PATTERNS, Human medicine, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome
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المؤلفون: Kelly G, Knupp, Erin, Leister, Jason, Coryell, Katherine C, Nickels, Nicole, Ryan, Elizabeth, Juarez-Colunga, William D, Gaillard, John R, Mytinger, Anne T, Berg, John, Millichap, Douglas R, Nordli, Sucheta, Joshi, Renée A, Shellhaas, Tobias, Loddenkemper, Dennis, Dlugos, Elaine, Wirrell, Joseph, Sullivan, Adam L, Hartman, Eric H, Kossoff, Zachary M, Grinspan, Lorie, Hamikawa, Shaun A, Hussain
المصدر: Epilepsia, vol 57, iss 11
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Clinical Trials and Supportive Activities, Clinical Sciences, Adrenocorticotropic hormone, Logistic regression, Infantile, Article, Vigabatrin, Spasms, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Adrenocorticotropic Hormone, Clinical Research, medicine, Humans, 030212 general & internal medicine, Treatment Failure, Response rate (survey), Pediatric, Neurology & Neurosurgery, Infantile spasms, business.industry, Neurosciences, Evaluation of treatments and therapeutic interventions, Infant, Pediatric Epilepsy Research Consortium, Neurology, 6.1 Pharmaceuticals, Cohort, Second-line treatment, Hormonal therapy, Anticonvulsants, Female, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery, Current Literature In Clinical Science, Cohort study, medicine.drug, Hormone
وصف الملف: application/pdf
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المؤلفون: Sucheta Joshi, Zbigniew W. Ras
المصدر: Fundamenta Informaticae. 30:313-324
مصطلحات موضوعية: Algebra and Number Theory, Information retrieval, business.industry, Computer science, Multi-agent system, computer.software_genre, Formal system, Theoretical Computer Science, Set (abstract data type), Distributed knowledge, Computational Theory and Mathematics, Knowledge extraction, Knowledge base, Complete information, Information system, Data mining, business, computer, Information Systems
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المؤلفون: Bassel, Abou-Khalil, Brian, Alldredge, Jocelyn, Bautista, Sam, Berkovic, Judith, Bluvstein, Alex, Boro, Gregory, Cascino, Damian, Consalvo, Sabrina, Cristofaro, Patricia, Crumrine, Orrin, Devinsky, Dennis, Dlugos, Michael, Epstein, Robyn, Fahlstrom, Miguel, Fiol, Nathan, Fountain, Kristen, Fox, Jacqueline, French, Catharine, Freyer Karn, Daniel, Friedman, Eric, Geller, Tracy, Glauser, Simon, Glynn, Kevin, Haas, Sheryl, Haut, Jean, Hayward, Sandra, Helmers, Sucheta, Joshi, Andres, Kanner, Heidi, Kirsch, Robert, Knowlton, Eric, Kossoff, Rachel, Kuperman, Ruben, Kuzniecky, Daniel, Lowenstein, Shannon, McGuire, Paul, Motika, Gerard, Nesbitt, Edward, Novotny, Ruth, Ottman, Juliann, Paolicchi, Jack, Parent, Kristen, Park, Annapurna, Poduri, Neil, Risch, Lynette, Sadleir, Ingrid, Scheffer, Renee, Shellhaas, Elliott, Sherr, Jerry J, Shih, Shlomo, Shinnar, Rani, Singh, Joseph, Sirven, Michael, Smith, Joe, Sullivan, Liu Lin, Thio, Anu, Venkat, Eileen, Vining, Gretchen, von Allmen, Judith, Weisenberg, Peter, Widdess-Walsh, Andrew, Yourich
المصدر: Clinical trials (London, England). 10(4)
مصطلحات موضوعية: Pharmacology, Research design, Genetic Research, Epilepsy, Genotype, business.industry, Information Management, Retrospective cohort study, General Medicine, Genome project, Phenome, medicine.disease, Article, Phenotype, Epilepsy Phenome/Genome Project, Research Design, Informatics, Medicine, Humans, Identification (biology), business, Clinical psychology, Oligonucleotide Array Sequence Analysis, Retrospective Studies
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المؤلفون: John R, Mytinger, Sucheta, Joshi, Anu, Venkat
المصدر: Journal of child neurology. 27(10)
مصطلحات موضوعية: Topiramate, medicine.medical_specialty, Pediatrics, Neurology, MEDLINE, Diagnostic evaluation, Vigabatrin, Responder rate, Tuberous sclerosis, Adrenocorticotropic Hormone, Outcome Assessment, Health Care, medicine, Humans, Societies, Medical, business.industry, Infant, medicine.disease, Health Surveys, Clinical trial, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Spasms, Infantile, medicine.drug
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