المؤلفون: Allen, Andrew S, Berkovic, Samuel F, Coe, Bradley P, Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Johnson, Michael R, Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J, Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K, Scheffer, Ingrid E, Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K, Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glynn, Simon, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Shellhaas, Renée A, Shih, Jerry J, Singh, Rani, Sirven, Joseph, Smith, Michael C, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess‐Walsh, Peter, Winawer, Melodie R

المصدر: Annals of Neurology. 78(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Neurodegenerative, Genetics, Intellectual and Developmental Disabilities (IDD), Epilepsy, Pediatric, Clinical Research, Brain Disorders, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Child, Preschool, Cohort Studies, DNA Copy Number Variations, Exome, Female, Humans, Infant, Infant, Newborn, Lennox Gastaut Syndrome, Male, Parents, Sequence Analysis, DNA, Spasms, Infantile, Epilepsy Phenome/Genome Project Epi4K Consortium, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3438h024

المؤلفون: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M, Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K, Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F, Berkovic, Samuel F, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P, Fiol, Miguel, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Geller, Eric B, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Helmers, Sandra L, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Knowlton, Robert C, Kossoff, Eric H, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Ottman, Ruth, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E, Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J, Singh, Rani, Sirven, Joseph, Smith, Michael C, Sullivan, Joe, Thio, Liu Lin

المصدر: American Journal of Human Genetics. 95(4)

مصطلحات موضوعية: Genetics, Pediatric, Neurosciences, Epilepsy, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Cohort Studies, Dynamin I, Exome, Fatty Acid Synthase, Type I, Female, Gene Regulatory Networks, Humans, Infant, Newborn, Lennox Gastaut Syndrome, Male, Mutation, Protein Interaction Maps, Receptors, GABA-B, Ryanodine Receptor Calcium Release Channel, Spasms, Infantile, Synaptic Transmission, EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4805b6c0

المؤلفون: EPGP Collaborative, Abou-Khalil, Bassel, Alldredge, Brian, Bautista, Jocelyn, Berkovic, Sam, Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Cristofaro, Sabrina, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael, Fahlstrom, Robyn, Fiol, Miguel, Fountain, Nathan, Fox, Kristen, French, Jacqueline, Freyer Karn, Catharine, Friedman, Daniel, Geller, Eric, Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl, Hayward, Jean, Helmers, Sandra, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi, Knowlton, Robert, Kossoff, Eric, Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel, McGuire, Shannon, Motika, Paul, Nesbitt, Gerard, Novotny, Edward, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack, Park, Kristen, Poduri, Annapurna, Risch, Neil, Sadleir, Lynette, Scheffer, Ingrid, Shellhaas, Renee, Sherr, Elliott, Shih, Jerry J, Shinnar, Shlomo, Singh, Rani, Sirven, Joseph, Smith, Michael, Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen, von Allmen, Gretchen, Weisenberg, Judith, Widdess-Walsh, Peter, Winawer, Melodie

المصدر: Clinical trials (London, England). 10(4)

مصطلحات موضوعية: EPGP Collaborative, Humans, Epilepsy, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Genetic Research, Genotype, Phenotype, Research Design, Information Management, Clinical Research, Neurodegenerative, Neurosciences, Brain Disorders, Genetics, 2.1 Biological and endogenous factors, Aetiology, Neurological, Statistics, Clinical Sciences, Statistics & Probability

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1t77p43g

المؤلفون: Gursky, Jonathan M., Boro, Alex, Escalante, Sheri, Ferastraoaru, Victor, Hanumanthu, Rajani, Haut, Sheryl, Jehle, Rana, Molinero, Isaac, Rick, Lindsay, Rosengard, Jillian, Saifeddine, Mohamad, Sugrue, William, Moshé, Solomon L., Ballaban-Gil, Karen

المصدر: Neurology Clinical Practice ; volume 11, issue 2 ; ISSN 2163-0402 2163-0933

الاتاحة: http://dx.doi.org/10.1212/cpj.0000000000001028
https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000001028

المؤلفون: Boro, Alex, Engel, Jerome

المصدر: Oxford Medicine Online

الاتاحة: https://doi.org/10.1093/med/9780199937837.003.0043

المؤلفون: French, Jacqueline A., Cole, Andrew J., Faught, Edward, Theodore, William H., Vezzani, Annamaria, Liow, Kore, Halford, Jonathan J., Armstrong, Robert, Szaflarski, Jerzy P., Hubbard, Sarah, Patel, Jagdish, Chen, Kun, Feng, Wei, Rizzo, Marco, Elkins, Jacob, Knafler, Gabrielle, Parkerson, Kimberly A., Klein, Pavel, Benbadis, Selim, Tecoma, Evelyn, Balabanov, Antoaneta, Vossler, David, Husain, Aatif, Boro, Alex, Oster, Joel, Gelfand, Michael, Koubeissi, Mohamad, Sirven, Joseph, Harvey, Jay, Kassab, Mounzer, Hogan, Edward, Lee, Ki Hyeong, Beach, Robert, Shin, Hae, Sarkis, Rani, Flitman, Stephen, Honeycutt, William, Ayala, Ricardo, Bautista, Ramon, Berg, Michel, Carran, Melissa, Kudrow, David, Ting, Tricia, Rafecas, Jose

المصدر: Neurology ; volume 97, issue 18 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000012766
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000012766

المؤلفون: Widdess‐Walsh, Peter, Dlugos, Dennis, Fahlstrom, Robyn, Joshi, Sucheta, Shellhaas, Renée, Boro, Alex, Sullivan, Joseph, Geller, Eric

المساهمون: Finding a Cure for Epilepsy and Seizures Foundation and the Richard Thalheimer Philanthropic Fund

المصدر: Epilepsia ; volume 54, issue 11, page 1898-1904 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/epi.12395
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fepi.12395
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.12395

المؤلفون: French, Jacqueline A., Cole, Andrew J., Faught, Edward, Theodore, William H., Vezzani, Annamaria, Liow, Kore, Halford, Jonathan J., Armstrong, Robert, Szaflarski, Jerzy P., Hubbard, Sarah, Patel, Jagdish, Chen, Kun, Feng, Wei, Rizzo, Marco, Elkins, Jacob, Knafler, Gabrielle, Parkerson, Kimberly A., Klein, Pavel, Benbadis, Selim, Tecoma, Evelyn, Balabanov, Antoaneta, Vossler, David, Husain, Aatif, Boro, Alex, Oster, Joel, Gelfand, Michael, Koubeissi, Mohamad, Sirven, Joseph, Harvey, Jay, Kassab, Mounzer, Hogan, Edward, Lee, Ki Hyeong, Beach, Robert, Shin, Hae, Sarkis, Rani, Flitman, Stephen, Honeycutt, William, Ayala, Ricardo, Bautista, Ramon, Berg, Michel, Carran, Melissa, Kudrow, David, Ting, Tricia, Rafecas, Jose

المصدر: Neurology (Ovid); November 2021, Vol. 97 Issue: 18 pe1757-e1767, 11p

المؤلفون: Appenzeller, Silke, BALLING, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, Jonghe, Peter De, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, KRAUSE, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, MAY, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, Spiczak, Sarah Von, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Allmen, Gretchen K. Von, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group), Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group)

المصدر: American Journal of Human Genetics, 100 (1), 179 - (2017-01-05)

مصطلحات موضوعية: Genetics, Epilepsy, DNM1, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: http://www.sciencedirect.com/science/article/pii/S0002929716305389; urn:issn:0002-9297; urn:issn:1537-6605; https://orbilu.uni.lu/handle/10993/30333; info:hdl:10993/30333; wos:000391910500016

الاتاحة: https://orbilu.uni.lu/handle/10993/30333
https://doi.org/10.1016/j.ajhg.2016.12.012

المؤلفون: Allen, Andrew S., Bellows, Susannah T., Berkovic, Samuel F., Bridgers, Joshua, Burgess, Rosemary, Cavalleri, Gianpiero, Chung, Seo-Kyung, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Epstein, Michael P., Freyer, Catharine, Goldstein, David B., Heinzen, Erin L., Hildebrand, Michael S., Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mayeux, Richard, Mebane, Caroline, Mefford, Heather C., O'Brien, Terence J., Ottman, Ruth, Petrou, Steven, Petrovski, Slavgé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Scheffer, Ingrid E., Sills, Graeme J., Thomas, Rhys H., Wang, Quanli, Abou-Khalil, Bassel, Alldredge, Brian K., Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Berkovic, Samuel F, Bluvstein, Judith, Boro, Alex, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Sadleir, Lynette G., Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sirven, Joseph, Smith, Michael C., Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R.

وصف الملف: text

Relation: http://eprints.gla.ac.uk/172544/1/172544.pdf; Allen, A. S. et al. (2017) Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurology , 16(2), pp. 135-143. (doi:10.1016/s1474-4422(16)30359-3 ) (PMID:28102150)

الاتاحة: http://eprints.gla.ac.uk/172544/
http://eprints.gla.ac.uk/172544/1/172544.pdf

المؤلفون: Allen, Andrew S, Bellows, Susannah T, Berkovic, Samuel F, Bridgers, Joshua, Burgess, Rosemary, Cavalleri, Gianpiero, Chung, Seo-Kyung, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Epstein, Michael P, Freyer, Catharine, Goldstein, David B, Heinzen, Erin L, Hildebrand, Michael S, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mayeux, Richard, Mebane, Caroline, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slavgé, Pickrell, William O, Poduri, Annapurna, Radtke, Rodney A, Rees, Mark I, Regan, Brigid M, Ren, Zhong, Scheffer, Ingrid E, Sills, Graeme J, Thomas, Rhys H, Wang, Quanli, Abou-Khalil, Bassel, Alldredge, Brian K, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin

المصدر: The Lancet Neurology ; volume 16, issue 2, page 135-143 ; ISSN 1474-4422

الاتاحة: http://dx.doi.org/10.1016/s1474-4422(16)30359-3
https://api.elsevier.com/content/article/PII:S1474442216303593?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1474442216303593?httpAccept=text/plain

المؤلفون: Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

المصدر: American Journal of Human Genetics, 100(1), 179. Cell Press

مصطلحات موضوعية: Genetics, Genetics(clinical)

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::24201f75f89c8a056998ad9955236266
https://dspace.library.uu.nl/handle/1874/356468

المؤلفون: Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.

المساهمون: Wellcome Trust

المصدر: Annals of neurology, vol 78, iss 2
Annals of Neurology

مصطلحات موضوعية: Parents, Male, Epilepsy Phenome/Genome Project Epi4K Consortium, Neurodegenerative, Bioinformatics, Infantile, Spasms, Cohort Studies, Epilepsy, 0302 clinical medicine, 2.1 Biological and endogenous factors, Exome, Copy-number variation, Aetiology, Child, Exome sequencing, Genetics, Pediatric, 0303 health sciences, Neurology, Child, Preschool, Female, Brief Communications, Spasms, Infantile, Sequence Analysis, Adult, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Copy number analysis, Phenome, Biology, Brief Communication, 03 medical and health sciences, Clinical Research, mental disorders, medicine, Humans, Preschool, 030304 developmental biology, Neurology & Neurosurgery, Lennox Gastaut Syndrome, Human Genome, Infant, Newborn, Neurosciences, Infant, 1103 Clinical Sciences, Sequence Analysis, DNA, DNA, medicine.disease, Newborn, Brain Disorders, Human genome, Neurology (clinical), 1109 Neurosciences, 030217 neurology & neurosurgery, Lennox–Gastaut syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ef6c5356861521355bd774275af47f9
http://hdl.handle.net/10044/1/41944

المؤلفون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, Jonghe, Peter De, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, Spiczak, Sarah Von, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Allmen, Gretchen K. Von, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O’Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

مصطلحات الفهرس: Genetics, Epilepsy, DNM1, info:eu-repo/semantics/article

URL: http://www.sciencedirect.com/science/article/pii/S0002929716305389
http://orbilu.uni.lu/handle/10993/30333
http://orbilu.uni.lu/bitstream/10993/30333/1/1-s2.0-S0002929716305389-main.pdf

المؤلفون: Genetica Groep Koeleman, Circulatory Health, Brain, Child Health, Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, Ruzzo, Elizabeth K.

URL: https://doi.org/10.1016/j.ajhg.2016.12.012
http://hdl.handle.net/1874/356468
https://dspace.library.uu.nl/handle/1874/356468
http://www.scopus.com/inward/record.url?scp=85009784237&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
100
1

المؤلفون: Lado, Fred, Spiegel, Rebecca, Masur, Jonathan H., Boro, Alex, Haut, Sheryl R.

المصدر: Epilepsy Research ; volume 78, issue 2-3, page 155-160 ; ISSN 0920-1211

الاتاحة: http://dx.doi.org/10.1016/j.eplepsyres.2007.11.003
https://api.elsevier.com/content/article/PII:S0920121107003452?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0920121107003452?httpAccept=text/plain

المؤلفون: Kepecs, Migdana R., Boro, Alex, Haut, Sheryl, Kepecs, Gilbert, Moshé, Solomon L.

المصدر: Epilepsia ; volume 45, issue 9, page 1158-1162 ; ISSN 0013-9580 1528-1167

الاتاحة: http://dx.doi.org/10.1111/j.0013-9580.2004.07004.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0013-9580.2004.07004.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0013-9580.2004.07004.x

المؤلفون: Haut, Sheryl, Boro, Alex

المصدر: CONTINUUM: Lifelong Learning in Neurology ; volume 10, page 119-137 ; ISSN 1080-2371

الاتاحة: http://dx.doi.org/10.1212/01.con.0000293597.87141.a5
https://journals.lww.com/10.1212/01.CON.0000293597.87141.a5

المؤلفون: Allen, Andrew S., Bellows, Susannah T., Berkovic, Samuel F., Bridgers, Joshua, Burgess, Rosemary, Cavalleri, Gianpiero, Chung, Seo-Kyung, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Epstein, Michael P., Freyer, Catharine, Goldstein, David B., Heinzen, Erin L., Hildebrand, Michael S., Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mayeux, Richard, Mebane, Caroline, Mefford, Heather C., O Brien, Terence J., Ruth Ottman, Petrou, Steven, Petrovski, Slave, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Scheffer, Ingrid E., Sills, Graeme J., Thomas, Rhys H., Wang, Quanli, Abou-Khalil, Bassel, Alldredge, Brian K., Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Sadleir, Lynette G., Shellhaas, Renee A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Singh, Rani K., Sirven, Joseph, Smith, Michael C., Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Consortium, Epi K., Epilepsy Phenome-Genome Proj

المصدر: ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45f32b17bb7e1e30f8097c462292836d
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000391910800012&KeyUID=WOS:000391910800012

المؤلفون: Koko, Mahmoud, Motelow, Joshua E., EuroEPINOMICS-CoGIE Consortium, Stanley, Kate E., Bobbili, Dheeraj R., Dhindsa, Ryan S., May, Patrick, Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium

المساهمون: Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C.

المصدر: Epilepsia : the journal of the International League Against Epilepsy 63(3), 723-735 (2022). doi:10.1111/epi.17166

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1528-1167; info:eu-repo/semantics/altIdentifier/wos/WOS:000742638200001; info:eu-repo/semantics/altIdentifier/issn/0013-9580; info:eu-repo/semantics/altIdentifier/pmid/pmid:35032048; https://publications.rwth-aachen.de/record/855512; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-249384%22

الاتاحة: https://publications.rwth-aachen.de/record/855512
https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-249384%22