المؤلفون: Edmund Gilbert, Heather Zurel, Margaret E. MacMillan, Sedat Demiriz, Sadra Mirhendi, Michael Merrigan, Seamus O’Reilly, Anne M. Molloy, Lawrence C. Brody, Walter Bodmer, Richard A. Leach, Roderick E. M. Scott, Gerald Mugford, Ranjit Randhawa, J. Claiborne Stephens, Alison L. Symington, Gianpiero L. Cavalleri, Michael S. Phillips

المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/2c3ccb82bc0641ba833b58335d3b8326

المؤلفون: Isabelle Boothman, Lisa M. Clayton, Mark McCormack, Alexandra McKibben Driscoll, Remi Stevelink, Patrick Moloney, Roland Krause, Wolfram S. Kunz, Sarah Diehl, Terence J. O’Brien, Graeme J. Sills, Gerrit-Jan de Haan, Federico Zara, Bobby P. Koeleman, Chantal Depondt, Anthony G. Marson, Hreinn Stefansson, Kari Stefansson, John Craig, Michael R. Johnson, Pasquale Striano, Holger Lerche, Simon J. Furney, Norman Delanty, Consortium EpiPGX, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Joseph Willis, Mojgansadat Borghei, Simona Donatello, Martin J. Brodie, Pauls Auce, Andrea Jorgensen, Sarah R. Langley, Yvonne Weber, Christian Hengsbach, Martin Krenn, Fritz Zimprich, Ekaterina Pataraia, Karl Martin Klein, Hiltrud Muhle, Rikke S. Møller, Marina Nikanorova, Stefan Wolking, Ellen Campbell, Antonella Riva, Marcello Scala

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: adverse drug reaction, epilepsy, retina, genome wide association study, polygenic risk score, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1156362/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/9ba7aecc0196466792d32bdb7c7d0945

المؤلفون: Sara Larivière, Jessica Royer, Raúl Rodríguez-Cruces, Casey Paquola, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S. Keller, Fernando Cendes, Clarissa L. Yasuda, Leonardo Bonilha, Ezequiel Gleichgerrcht, Niels K. Focke, Martin Domin, Felix von Podewills, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Terence J. O’Brien, Benjamin Sinclair, Lucy Vivash, Patricia M. Desmond, Elaine Lui, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P. Doherty, Gianpiero L. Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D. Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H. Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Gavin P. Winston, Aoife Griffin, Aditi Singh, Vijay K. Tiwari, Barbara A. K. Kreilkamp, Matteo Lenge, Renzo Guerrini, Khalid Hamandi, Sonya Foley, Theodor Rüber, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J. A. Carr, Eugenio Abela, Mark P. Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N. Hatton, Sjoerd B. Vos, Lorenzo Caciagli, John S. Duncan, Christopher D. Whelan, Paul M. Thompson, Sanjay M. Sisodiya, Andrea Bernasconi, Angelo Labate, Carrie R. McDonald, Neda Bernasconi, Boris C. Bernhardt

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/42a2adc39a114a5faf720bcffa41fabd

المؤلفون: Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1376-1387 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/483d5fc6a76a46ce8fb02fcec7fc8db0

المؤلفون: Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri

المصدر: EBioMedicine, Vol 81, Iss , Pp 104098- (2022)

مصطلحات موضوعية: Epilepsy, DEEs, PRS, Genetic diagnostics, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396422002791; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/533a6eda95d24053b4f85652d7d21d32

المؤلفون: Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer

المصدر: Kidney International Reports, Vol 5, Iss 9, Pp 1472-1485 (2020)

مصطلحات موضوعية: autosomal dominant uromodulin kidney disease, genotype, phenotype, rs4293393, uromodulin, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024920313528; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/8ab1799f3ce441279d9513d18436243b

المؤلفون: Sushil Bhandari, Padma Dolma, Mitali Mukerji, Bhavana Prasher, Hugh Montgomery, Dalvir Kular, Vandana Jain, Vatsla Dadhwal, David J. Williams, Aniket Bhattacharyaa, Edmund Gilbert, Gianpiero L. Cavalleri, Sara L. Hillman

المصدر: PLoS ONE, Vol 17, Iss 9 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9488766/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d1929b24b495429e959cbc1c35006e6e

المؤلفون: Sinéad B. Heavin, Mark McCormack, Stefan Wolking, Lisa Slattery, Nicole Walley, Andreja Avbersek, Jan Novy, Saurabh R. Sinha, Rod Radtke, Colin Doherty, Pauls Auce, John Craig, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Terence J. O'Brien, Josemir W. Sander, Graeme J. Sills, Hreinn Stefansson, Pasquale Striano, Federico Zara, EPIGEN Consortium, EpiPGX Consortium, Chantal Depondt, Sanjay Sisodiya, David Goldstein, Holger Lerche, Gianpiero L. Cavalleri, Norman Delanty

المصدر: Epilepsia Open, Vol 4, Iss 4, Pp 563-571 (2019)

مصطلحات موضوعية: GWAS, lacosamide, pharmacogenomics, pharmacoresistance, refractory, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/7ae7a2327ac4494c96ca814b3ce3c63f

المؤلفون: Katri Silvennoinen, Nikola deLange, Sara Zagaglia, Simona Balestrini, Ganna Androsova, Merel Wassenaar, Pauls Auce, Andreja Avbersek, Felicitas Becker, Bianca Berghuis, Ellen Campbell, Antonietta Coppola, Ben Francis, Stefan Wolking, Gianpiero L. Cavalleri, John Craig, Norman Delanty, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Job van derPalen, Roland Krause, Chantal Depondt, Sanjay M. Sisodiya, the EpiPGX Consortium

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 420-430 (2019)

مصطلحات موضوعية: seizures, tolerability, adverse drug reactions, valproate, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/7e0bae26f0854a818290ffd6aefbb5da

المؤلفون: Chiara De Santi, Benson Jacob, Patricia Kroich, Sean Doyle, Rebecca Ward, Brian Li, Owain Donnelly, Amy Dykes, Trisha Neelakant, David Neary, Ross McGuinness, Jacqueline Cafferkey, Kieran Ryan, Veronica Quadu, Killian McGrogan, Alejandro Garcia Leon, Patrick Mallon, Fidelma Fitzpatrick, Hilary Humphreys, Eoghan De Barra, Steve W. Kerrigan, Gianpiero L. Cavalleri

المصدر: HRB Open Research, Vol 4 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://hrbopenresearch.org/articles/4-85/v2; https://doaj.org/toc/2515-4826

URL الوصول: https://doaj.org/article/6a25c9c00a0949a695969722322cde91