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Brain, ISSN 0006-8950, 05/2015, Volume 138, Issue Pt 5, pp. 1198 - 1207
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2016, Volume 53, Issue 12, pp. 850 - 858
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 10/2018, Volume 136, Issue 10, pp. 1128 - 1136
IMPORTANCE To date, several targeted genetic studies on chronic central serous chorioretinopathy (cCSC) have been performed; however, unbiased genome-wide... 
OPHTHALMOLOGY | FACTOR-H | GENETIC-VARIANTS | RISK-FACTORS | GWAS | CD46 | Online First | Original Investigation | Research
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2016, Volume 4, Issue 4, pp. 457 - 464
Journal Article
Epilepsy & Behavior, ISSN 1525-5050, 01/2019, Volume 90, pp. 252 - 259
Differentiating between Dravet syndrome and non-Dravet -related phenotypes is important for prognosis regarding epilepsy severity, cognitive development, and... 
Behavioral problems | GEFS | Comorbidities | SCN1A | Dravet | REDUCED SODIUM CURRENT | VARIANTS | PSYCHIATRY | BEHAVIOR | CLINICAL NEUROLOGY | CHILDREN | SCN1A GENE | MUTATION | DRAVET-SYNDROME | BEHAVIORAL SCIENCES | SEVERE MYOCLONIC EPILEPSY | QUALITY-OF-LIFE | SPECTRUM | Index Medicus
Journal Article
Genetic Epidemiology, ISSN 0741-0395, 12/2003, Volume 25, Issue 4, pp. 360 - 366
Large exploratory studies are often characterized by a preponderance of true null hypotheses, with a small though multiple number of false hypotheses.... 
multiple tests | false discovery rate | Bonferroni | False discovery rate | Multiple tests | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | BLOCKS | BONFERRONI PROCEDURE | DISEASE | GENETICS & HEREDITY | TRAITS | HOT | Models, Genetic | Algorithms | Genetic Markers | Models, Statistical | Genome, Human | Humans | Index Medicus
Journal Article
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-López, Rosa and Baulac, Stéphanie and Marini, Carla and Thiele, Holger and Altmüller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestèle, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Møller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenité, Dorothée and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, François and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clément, Jean-François and Cieuta-Walti, Cécile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Thomas and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, André G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nürnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ...
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 699 - 708
Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background... 
Index Medicus
Journal Article
by May, Patrick and Girard, Simon and Harrer, Merle and Bobbili, Dheeraj R and Schubert, Julian and Wolking, Stefan and Becker, Felicitas and Lachance-Touchette, Pamela and Meloche, Caroline and Gravel, Micheline and Niturad, Cristina E and Knaus, Julia and De Kovel, Carolien and Toliat, Mohamad and Polvi, Anne and Iacomino, Michele and Guerrero-Lopez, Rosa and Baulac, Stephanie and Marini, Carla and Thiele, Holger and Altmuller, Janine and Jabbari, Kamel and Ruppert, Ann-Kathrin and Jurkowski, Wiktor and Lal, Dennis and Rusconi, Raffaella and Cestele, Sandrine and Terragni, Benedetta and Coombs, Ian D and Reid, Christopher A and Striano, Pasquale and Caglayan, Hande and Siren, Auli and Everett, Kate and Moller, Rikke S and Hjalgrim, Helle and Muhle, Hiltrud and Helbig, Ingo and Kunz, Wolfram S and Weber, Yvonne G and Weckhuysen, Sarah and Jonghe, Peter De and Sisodiya, Sanjay M and Nabbout, Rima and Franceschetti, Silvana and Coppola, Antonietta and Vari, Maria S and Kasteleijn-Nolst Trenite, Dorothee and Baykan, Betul and Ozbek, Ugur and Bebek, Nerses and Klein, Karl M and Rosenow, Felix and Nguyen, Dang K and Dubeau, Francois and Carmant, Lionel and Lortie, Anne and Desbiens, Richard and Clement, Jean-Francois and Cieuta-Walti, Cecile and Sills, Graeme J and Auce, Pauls and Francis, Ben and Johnson, Michael R and Marson, Anthony G and Berghuis, Bianca and Sander, Josemir W and Avbersek, Andreja and McCormack, Mark and Cavalleri, Gianpiero L and Delanty, Norman and Depondt, Chantal and Krenn, Martin and Zimprich, Fritz and Peter, Sarah and Nikanorova, Marina and Kraaij, Robert and van Rooij, Jeroen and Balling, Rudi and Ikram, M Arfan and Uitterlinden, Andre G and Avanzini, Giuliano and Schorge, Stephanie and Petrou, Steven and Mantegazza, Massimo and Sander, Thomas and LeGuern, Eric and Serratosa, Jose M and Koeleman, Bobby P C and Palotie, Aarno and Lehesjoki, Anna-Elina and Nothnagel, Michael and Nurnberg, Peter and Maljevic, Snezana and Zara, Federico and Cossette, Patrick and Krause, Roland and Lerche, Holger and De Jonghe, Peter and Arfan Ikram, M and ...
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, p. 699
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1016/S1474-4422(18)30215-1... 
Analysis | Genes | Epilepsy | Genetic research | Twins
Journal Article
by López-Isac, Elena and Martín, Jose Ezequiel and Assassi, Shervin and Simeón, Carmen P and Carreira, Patricia and Ortego-Centeno, Norberto and Freire, Mayka and Beltrán, Emma and Narváez, Javier and Alegre-Sancho, Juan J and Fernández-Gutiérrez, Benjamín and Balsa, Alejano and Ortiz, Ana M and González-Gay, Miguel A and Beretta, Lorenzo and Santaniello, Alessano and Bellocchi, Chiara and Lunardi, Claudio and Moroncini, Gianluca and Gabrielli, Armando and Witte, Torsten and Hunzelmann, Nicolas and Distler, Jörg H W and Riekemasten, Gabriella and van der Helm-van Mil, Annette H and de Vries-Bouwstra, Jeska and Magro-Checa, Cesar and Voskuyl, Alexane E and Vonk, Madelon C and Molberg, Øyvind and Merriman, Tony and Hesselstrand, Roger and Nordin, Annika and Padyukov, Leonid and Herrick, Ariane and Eyre, Steve and Koeleman, Bobby P C|info:eu-repo/dai/nl/157197468 and Denton, Christopher P and Fonseca, Carmen and Radstake, Timothy R D J and Worthington, Jane and Mayes, Maureen D and Martín, Javier and Ríos, Raquel and Callejas, Jose Luis and Hitos, José Antonio Vargas and Portales, Rosa García and Camps, María Teresa and Fernández-Nebro, Antonio and González-Escribano, María F and García-Hernández, Francisco José and Castillo, Ma Jesús and Ángeles Aguirre, Ma and Gómez-Gracia, Inmaculada and Roíguez-Roíguez, Luis and Peña, Paloma García de la and Vicente, Esther and Aneu, José Luis and de Castro, Mónica Fernández and López-Longo, Francisco Javier and Martínez, Lina and Fonollosa, Vicente and Guillén, Alfredo and Castellví, Iván and Espinosa, Gerard and Tolosa, Carlos and Pros, Anna and Carballeira, Mónica Roíguez and Narváez, Francisco Javier and Rivas, Manel Rubio and Ortiz-Santamaría, Vera and Maoñero, Ana Belén and Díaz, Bernardino and Trapiella, Luis and Sousa, Aián and Egurbide, María Victoria and Mateo, Patricia Fanlo and Sáez-Comet, Luis and Díaz, Federico and Hernández, Vanesa and Román-Ivorra, José Anés and Grau, Elena and Alegre-Sancho, Juan José and Blanco García, Francisco J and Oreiro, Natividad
Arthritis & Rheumatology, ISSN 2326-5191, 09/2016, Volume 68, Issue 9, p. 2338
Objective: Systemic sclerosis (SSc) and rheumatoid arthritis (RA) are autoimmune diseases that have similar clinical and immunologic characteristics. To date,... 
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 2, pp. 101 - 102
  Most importantly, a collapsing analysis was done in which each gene was tested for a difference in the absolute number of ultra-rare (absent in public... 
Neurology | CLINICAL NEUROLOGY | Genetic Variation | Epilepsy - genetics | DNA Mutational Analysis | Humans | Case-Control Studies | Epilepsy | Genetic aspects | Genetics | Genomes | Mutation | Disease | Genes | Index Medicus
Journal Article
by Prins, B.P and Abbasi, A and Wong, A and Vaez, Ahmad and Nolte, Ilja and Franceschini, Nora and Stuart, P.E and Guterriez Achury, J and Mistry, V and Bradfield, Jonathan and Valdes, Ana Maria and Bras, Jose and Shatunov, Aleksey and Lu, Chao and Han, B and Raychaudhuri, Soumya and Bevan, Steve and Mayes, M.D and Tsoi, L.C and Evangelou, Evangelos and Nair, Rajan P and Grant, Struan and Polychronakos, Constantin and Radstake, Timothy and Heel, David and Dunstan, M.L and Wood, Nicholas and Al-Chalabi, Ammar and Dehghan, Abbas and Hakonarson, Hakon and Markus, H.S and Elder, James and Knight, J and Arking, Dan and Spector, Timothy and Koeleman, Bobby and Duijn, Cornelia and Martín, Javier and Morris, Anew and Weersma, Rinse K and Wijmenga, Cisca and Munroe, Patricia and Perry, John and Pouget, J.G and Jamshidi, Yalda and Snieder, Harold and Alizadeh, Behrooz and Inflammation Working Grp CHARGE Co and Autism Spectrum Disorder Working G and PAGE Consortium and Int Consortium Blood Pressure and Int Parkinson Dis Genomics Consort and Schizophrenia Working Grp Psychiat and DIAGRAM Consortium and CARDIoGRAMplusC4d Consortium and Int Stroke Genetics Consortium and Treat OA Consortium and ALS Consortium and CKDGen Consortium and Systemic Sclerosis Consortium and GERAD1 Consortium and International Consortium for Blood Pressure and International Stroke Genetics Consortium and Treat OA consortium and ALS consortium and CKDGen consortium and Schizophrenia Working Group of the Psychiatric Genomics Consortium and Systemic Sclerosis consortium and Inflammation Working Group of the CHARGE Consortium and International Parkinson’s Disease Genomics Consortium and CARDIoGRAMplusC4D Consortium and Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium
PLoS Medicine, ISSN 1549-1277, 06/2016, Volume 13, Issue 6, pp. e1001976 - e1001976
Journal Article
Neurotherapeutics, ISSN 1933-7213, 01/2016, Volume 13, Issue 1, p. 192
Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain.... 
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2019, Volume 7, Issue 7, pp. e00727 - n/a
Journal Article