المؤلفون: White, TB, Serratosa, J, Allinson, T, Jones, VR, Petrovan, SO, Jobson, BR, Jones, KR, Sutherland, WJ

مصطلحات موضوعية: 41 Environmental Sciences, 4104 Environmental Management, Cost Effectiveness Research, Clinical Research, Comparative Effectiveness Research, 8.2 Health and welfare economics

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/372083; https://doi.org/10.17863/CAM.111013

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/372083
https://doi.org/10.17863/CAM.111013

المؤلفون: Koepp M. J., Trinka E., Mah Y. -H., Bentes C., Knake S., Gigli G. L., Serratosa J. M., Zelano J., Magalhaes L. M., Pereira A., Moreira J., Soares-da-Silva P.

المساهمون: Koepp, M. J., Trinka, E., Mah, Y. -H., Bentes, C., Knake, S., Gigli, G. L., Serratosa, J. M., Zelano, J., Magalhaes, L. M., Pereira, A., Moreira, J., Soares-da-Silva, P.

مصطلحات موضوعية: acute intracerebral hemorrhage or infarct, antiseizure medication, epilepsy, epileptogenesi, unprovoked seizure

Relation: journal:EPILEPSIA OPEN; https://hdl.handle.net/11390/1251734; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161680751

الاتاحة: https://hdl.handle.net/11390/1251734
https://doi.org/10.1002/epi4.12735

المؤلفون: Steinhoff, B. J., Ben-Menachem, Elinor, 1945, Brandt, C., Morales, I. G., Rosenfeld, W. E., Santamarina, E., Serratosa, J. M.

المصدر: Acta Neurologica Scandinavica. 146(3):265-275

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, anticonvulsants, cenobamate, clinical trial, double-blind method, drug, therapy, combination, drug-related side effects and adverse reactions, drug-resistant epilepsy, seizures, epilepsy, clobazam, Neurosciences & Neurology

URL الوصول: https://gup.ub.gu.se/publication/317349

المؤلفون: Coppola A., Cellini E., Stamberger H., Saarentaus E., Cetica V., Lal D., Djemie T., Bartnik-Glaska M., Ceulemans B., Helen Cross J., Deconinck T., Masi S. D., Dorn T., Guerrini R., Hoffman-Zacharska D., Kooy F., Lagae L., Lench N., Lemke J. R., Lucenteforte E., Madia F., Mefford H. C., Morrogh D., Nuernberg P., Palotie A., Schoonjans A. -S., Striano P., Szczepanik E., Tostevin A., Vermeesch J. R., Van Esch H., Van Paesschen W., Waters J. J., Weckhuysen S., Zara F., Jonghe P. D., Sisodiya S. M., Marini C., Lehesjioki A. -E., Craiu D., Talvik T., Caglayan H., Serratosa J., Sterbova K., Moller R. S., Hjalgrim H., Lerche H., Weber Y., Helbig I., von Spiczak S., Barba C., Bogaerts A., Boni A., Galizia E. C., Chiari S., Di Gacomo G., Ferrari A., Guarducci S., Giglio S., Holmgren P., Leu C., Melani F., Novara F., Pantaleo M., Peeters E., Pisano T., Rosati A., Sander J., Schoeler N., Stankiewicz P., Striano S., Suls A., Traverso M., Vandeweyer G., Van Dijck A., Zuffardi O.

المساهمون: Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Helen Cross, J., Deconinck, T., Masi, S. D., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E., Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A. -S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., Lehesjioki, A. -E., Craiu, D., Talvik, T., Caglayan, H., Serratosa, J., Sterbova, K., Moller, R. S., Hjalgrim, H., Lerche, H., Weber, Y., Helbig, I., von Spiczak, S., Barba, C., Bogaerts, A., Boni, A., Galizia, E. C., Chiari, S., Di Gacomo, G., Ferrari, A., Guarducci, S., Giglio, S., Holmgren, P., Leu, C., Melani, F., Novara, F., Pantaleo, M., Peeters, E., Pisano, T., Rosati, A., Sander, J., Schoeler, N., Stankiewicz, P., Striano, S., Suls, A., Traverso, M., Vandeweyer, G., Van Dijck, A., Zuffardi, O.

مصطلحات موضوعية: array CGH, copy number variant, epilepsy gene, SNP array

Relation: info:eu-repo/semantics/altIdentifier/pmid/30866059; info:eu-repo/semantics/altIdentifier/wos/WOS:000463267500012; volume:60; issue:4; firstpage:689; lastpage:706; numberofpages:18; journal:EPILEPSIA; http://hdl.handle.net/11568/996341; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063785575

الاتاحة: http://hdl.handle.net/11568/996341
https://doi.org/10.1111/epi.14683
https://onlinelibrary.wiley.com/doi/full/10.1111/epi.14683

المؤلفون: Siekierska A., Stamberger H., Deconinck T., Oprescu S. N., Partoens M., Zhang Y., Sourbron J., Adriaenssens E., Mullen P., Wiencek P., Hardies K., Lee J. -S., Giong H. -K., Distelmaier F., Elpeleg O., Helbig K. L., Hersh J., Isikay S., Jordan E., Karaca E., Kecskes A., Lupski J. R., Kovacs-Nagy R., May P., Narayanan V., Pendziwiat M., Ramsey K., Rangasamy S., Shinde D. N., Spiegel R., Timmerman V., von Spiczak S., Helbig I., Balak C., Belnap N., Claasen A., Courtright A., de Both M., Huentelman M. J., Naymik M., Richholt R., Siniard A. L., Szelinger S., Craig D. W., Schrauwen I., Afawi Z., Balling R., Baulac S., Barisic N., Caglayan H. S., Craiu D., Guerrero-Lopez R., Guerrini R., Hjalgrim H., Jahn J., Klein K. M., Leguern E., Lemke J. R., Lerche H., Marini C., Moller R. S., Muhle H., Rosenow F., Serratosa J., Suls A., Stephani U., Sterbova K., Striano P., Zara F., Weckhuysen S., Francklyn C., Antonellis A., de Witte P., De Jonghe P.

المساهمون: Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J. -S., Giong, H. -K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., Karaca, E., Kecskes, A., Lupski, J. R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D. N., Spiegel, R., Timmerman, V., von Spiczak, S., Helbig, I., Balak, C., Belnap, N., Claasen, A., Courtright, A., de Both, M., Huentelman, M. J., Naymik, M., Richholt, R., Siniard, A. L., Szelinger, S., Craig, D. W., Schrauwen, I., Afawi, Z., Balling, R., Baulac, S., Barisic, N., Caglayan, H. S., Craiu, D., Guerrero-Lopez, R., Guerrini, R., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lemke, J. R., Lerche, H., Marini, C., Moller, R. S., Muhle, H., Rosenow, F., Serratosa, J., Suls, A., Stephani, U., Sterbova, K., Striano, P., Zara, F., Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P., De Jonghe, P.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000458398900002; volume:10 Article number: 708 (2019); firstpage:708; lastpage:708; numberofpages:1; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1021920; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85061489358

الاتاحة: http://hdl.handle.net/11567/1021920
https://doi.org/10.1038/s41467-018-07953-w

المؤلفون: Giraldez B. G., Serratosa J. M., Striano S., Ikeda A., Striano P., Coppola A.

المساهمون: Giraldez, B. G., Serratosa, J. M., Striano, S., Ikeda, A., Striano, P., Coppola, A.

مصطلحات موضوعية: autosomal dominant, BAFME, cortical tremor, FAME, myoclonic tremor, myoclonus

Relation: volume:64; issue:1; firstpage:S9; lastpage:S13; journal:EPILEPSIA; https://hdl.handle.net/11588/960702; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152270985

الاتاحة: https://hdl.handle.net/11588/960702
https://doi.org/10.1111/epi.17595

المؤلفون: Vendrell, M, Zawia, NH, Serratosa, J, Bondy, SC

المصدر: Brain research. 544(2)

مصطلحات موضوعية: Nervous System, Cerebral Cortex, Animals, Rats, Seizures, Diazepam, Ornithine Decarboxylase, Proto-Oncogene Proteins c-fos, Proto-Oncogene Proteins, RNA, Messenger, Gene Expression, Transcription, Genetic, Male, Hexachlorocyclohexane, C-FOS, ORNITHINE DECARBOXYLASE, LINDANE, CORTEX, NEUROTOXIC, Neurology & Neurosurgery, Neurosciences, Cognitive Sciences, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/39g9c3w1

المؤلفون: Villanueva, V., Giráldez, B. G., Toledo, M., De Haan, G. J., Cumbo, E., Gambardella, A., De Backer, M., Joeres, L., Brunnert, M., Dedeken, P., Serratosa, J.

المساهمون: UAM. Departamento de Medicina

مصطلحات موضوعية: Antiepileptic drug, Clinical practice, Epilepsy, Focal seizures, Monotherapy, Partial, Partial-onset, Medicina

وصف الملف: application/pdf

Relation: Acta Neurologica Scandinavica; https://doi.org/10.1111/ane.12920; Acta Neurologica Scandinavica March (2018): 1-9; http://hdl.handle.net/10486/682514; x

الاتاحة: http://hdl.handle.net/10486/682514
https://doi.org/10.1111/ane.12920

المؤلفون: Villalba-Orero, M., Sanchez-Elexpuru, G., Lopez-Olaneta, M.M., Larrasa-Alonso, J.J., Campuzano, O., Moncayo-Arlandi, J., Bello-Arroyo, E., Padron-Barthe, L., Garcia-Pavia, P., Serratosa, J., Brugada, R., Sanchez, M., Lara-Pezzi, E.

المصدر: European Heart Journal ; volume 38, issue suppl_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehx501.42
http://academic.oup.com/eurheartj/article-pdf/38/suppl_1/ehx501.42/19618812/ehx501.42.pdf

المؤلفون: Calleja M, Navarro A, Serratosa J, Toledo M, Villanueva V, Labazuy S, Gil A

المصدر: EXPERT REVIEW OF PHARMACOECONOMICS & OUTCOMES RESEARCH
r-FISABIO. Repositorio Institucional de Producción Científica
instname

مصطلحات موضوعية: drug-resistant epilepsy, Spain, Anti-seizure medications, economically justifiable price, cenobamate, cost-effectiveness

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e7df58e794d7efcef47866fb937fe078
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13901

المؤلفون: Brandt, C., Serratosa, J., Villanueva, V., Milanov, I., Milovanovic, M., Alvarez-Baron, E., Steinhoff, B.

المصدر: EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Epilepsia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2405e4980bb50cb2011f0b1adae5b8d7
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16708

المؤلفون: Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G., Jaehn, J., Anttonen, A., Brilstra, E., Caglayan, H., De Kovel, C., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B., Leguern, E., Lehesjoki, A., Lemke, J., Leu, C., Marini, C., McMahon, J., Mei, D., Moller, R., Muhle, H., Myers, C., Nava, C., Serratosa, J., Sisodiya, S., Stephani, U., Striano, P., van Kempen, M., Verbeek, N., Usluer, S., Zara, F., Palotie, A., Mefford, H., Scheffer, I., De Jonghe, P., Helbig, I., Suls, A.

المصدر: Molecular Genetics & Genomic Medicine

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4; http://hdl.handle.net/11858/00-001M-0000-002B-9C61-D

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002B-9C5F-4
http://hdl.handle.net/11858/00-001M-0000-002B-9C61-D

المؤلفون: Ferre, S, Tusell, JM, Barron, S, GimenezLlort, L, Martinez, E, Serratosa, J

المصدر: Neuroscience letters. 212(3):147-150

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1928638

المؤلفون: Lal D., May P., Perez-Palma E., Samocha K. E., Kosmicki J. A., Robinson E. B., Moller R. S., Krause R., Nurnberg P., Weckhuysen S., De Jonghe P., Guerrini R., Niestroj L. M., Du J., Marini C., Balling R., Barisic N., Baulac S., Caglayan H., Craiu D. C., Depienne C., Helbig I., Hjalgrim H., Hoffman-Zacharska D., Jahn J., Klein K. M., Koeleman B. P. C., Komarek V., Leguern E., Lehesjoki A. -E., Lemke J. R., Lerche H., Linnankivi T., Muhle H., Pal D. K., Palotie A., Rosenow F., Schubert-Bast S., Selmer K., Serratosa J. M., Stephani U., Sterbova K., Striano P., Suls A., Talvik T., Von Spiczak S., Weber Y. G., Zara F., Ware J. S., Kurki M., Gormley P., Tang S., Wu S., Biskup S., Poduri A., Neubauer B. A., Helbig K. L., Majithia A. R., Daly M. J.

المساهمون: Lal, D., May, P., Perez-Palma, E., Samocha, K. E., Kosmicki, J. A., Robinson, E. B., Moller, R. S., Krause, R., Nurnberg, P., Weckhuysen, S., De Jonghe, P., Guerrini, R., Niestroj, L. M., Du, J., Marini, C., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D. C., Depienne, C., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jahn, J., Klein, K. M., Koeleman, B. P. C., Komarek, V., Leguern, E., Lehesjoki, A. -E., Lemke, J. R., Lerche, H., Linnankivi, T., Muhle, H., Pal, D. K., Palotie, A., Rosenow, F., Schubert-Bast, S., Selmer, K., Serratosa, J. M., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., Von Spiczak, S., Weber, Y. G., Zara, F., Ware, J. S., Kurki, M., Gormley, P., Tang, S., Wu, S., Biskup, S., Poduri, A., Neubauer, B. A., Helbig, K. L., Majithia, A. R., Daly, M. J.

مصطلحات موضوعية: Conservation, Gene family, Missense variant, Neurodevelopmental disorder, Paralogs

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000521208500001; volume:12; firstpage:28; lastpage:28; numberofpages:1; journal:GENOME MEDICINE; http://hdl.handle.net/11567/1021987; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082059954

الاتاحة: http://hdl.handle.net/11567/1021987
https://doi.org/10.1186/s13073-020-00725-6

المؤلفون: Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémie, T., Afrikanova, T., Gormley, P., Von Spiczak, S., Kluger, G., Iliescu, C. M., Talvik, T., Talvik, I., Meral, C., Caglayan, H. S., Giraldez, B. G., Serratosa, J., Lemke, J. R., Hoffman-Zacharska, D., Szczepanik, E., Barisic, N., Komarek, V., Hjalgrim, H., Møller, R. S., Linnankivi, T., Dimova, P., Striano, P., Zara, F., Marini, C., Guerrini, R., Depienne, C., Baulac, S., Kuhlenbäumer, G., Crawford, Alexander Dettmar, Lehesjoki, A.-E., De Witte, P. A. M., Palotie, A., Lerche, H., Esguerra, C. V., De Jonghe, P., Helbig, I.

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group)

المصدر: American Journal of Human Genetics, 93 (5), 967-975 (2013)

مصطلحات موضوعية: DNA binding protein, DNA fragment, Animals, Child, Cognition Disorders, Cohort Studies, DNA-Binding Proteins, Epilepsies, Myoclonic, Exome, Female, Gene Knockdown Techniques, Haploinsufficiency, Humans, Intellectual Disability, Larva, Male, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Febrile, Young Adult, Zebrafish, Danio rerio, Human health sciences, Sciences de la santé humaine

Relation: urn:issn:0002-9297; https://orbilu.uni.lu/handle/10993/27271; info:hdl:10993/27271; https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdf; info:pmid: PMID: PMID: 24207121; wos:000326996600017

الاتاحة: https://orbilu.uni.lu/handle/10993/27271
https://orbilu.uni.lu/bitstream/10993/27271/1/Suls%2c%20Jaehn%2c%20Crawford%202013%20copy.pdf
https://doi.org/10.1016/j.ajhg.2013.09.017

المؤلفون: Serratosa, J. M., Villanueva, V., Kerling, F., Kasper, B. S.

المصدر: Acta Neurologica Scandinavica ; volume 127, page 30-35 ; ISSN 0001-6314

الاتاحة: http://dx.doi.org/10.1111/ane.12102
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fane.12102
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ane.12102/fullpdf

المؤلفون: Berthe F, Vannier P, Have P, Serratosa J, Bastino E, Broom DM, Hartung J, Sharp JM

المصدر: EFSA Journal, Vol 10, Iss 10 (2012)

مصطلحات موضوعية: Animal health, animal welfare, risk assessment, Nutrition. Foods and food supply, TX341-641, Chemical technology, TP1-1185

وصف الملف: electronic resource

Relation: http://www.efsa.europa.eu/en/efsajournal/doc/s1002.pdf; https://doaj.org/toc/1831-4732

URL الوصول: https://doaj.org/article/ea9bb6edd7ab410ba298f4f495c5b6e2

المؤلفون: Steffens, M., Leu, C., Ruppert, A., Zara, F., Striano, P., Robbiano, A., Capovilla, G., Tinuper, P., Gambardella, A., Bianchi, A., La Neve, A., Crichiutti, G., de Kovel, Kasteleijn-Nolst Trenite, D., de Haan, Lindhout, D., Gaus, V., Schmitz, B., Janz, D., Weber, Y., Becker, F., Lerche, H., Steinhoff, B., Kleefuss-Lie, A., Kunz, W., Surges, R., Elger, C., Muhle, H., von Spiczak, S., Ostertag, P., Helbig, I., Stephani, U., Moller, R., Hjalgrim, H., Dibbens, L., Bellows, S., Oliver, K., Mullen, S., Scheffer, I., Berkovic, S., Everett, K., Gardiner, M., Marini, C., Guerrini, R., Lehesjoki, A., Siren, A., Guipponi, M., Malafosse, A., Thomas, P., Nabbout, R., Baulac, S., Leguern, E., Guerrero, R., Serratosa, J., Reif, P., Rosenow, F., Morzinger, M., Feucht, M., Zimprich, F., Kapser, C., Schankin, C., Suls, A., Smets, K., De Jonghe, P., Jordanova, A., Caglayan, H., Yapici, Z., Yalcin, D., Baykan, B., Bebek, N., Ozbek, U., Gieger, C., Wichmann, H., Balschun, T., Ellinghaus, D., Franke, A., Meesters, C., Becker, T., Wienker, T., Hempelmann, A., Schulz, H., Ruschendorf, F., Leber, M., Pauck, S., Trucks, H., Toliat, M., Nurnberg, P., Avanzini, G., Koeleman, B., Sander, T.

المصدر: Human Molecular Genetics

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-000E-EC6A-2; http://hdl.handle.net/11858/00-001M-0000-000E-EEDD-E

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-000E-EC6A-2
http://hdl.handle.net/11858/00-001M-0000-000E-EEDD-E

المؤلفون: Perez-Luna, M., Aguasca, M., Perearnau, A., Serratosa, J., Martinez-Balbas, M., Jesus Pujol, M., Bachs, O.

المصدر: Nucleic Acids Research ; volume 40, issue 14, page 6520-6533 ; ISSN 0305-1048 1362-4962

الاتاحة: http://dx.doi.org/10.1093/nar/gks343
http://academic.oup.com/nar/article-pdf/40/14/6520/7212826/gks343.pdf

المؤلفون: Heyne, H. O., Singh, T., Stamberger, H., Abou Jamra, R., Caglayan, H., Craiu, D., De Jonghe, P., Guerrini, R., Helbig, K. L., Koeleman, B. P. C., Kosmicki, J. A., Linnankivi, T., May, P., Muhle, H., Moller, R. S., Neubauer, B. A., Palotie, A., Pendziwiat, M., Striano, P., Tang, S., Wu, S., Afawi, Z., De Kovel, C., Dimova, P., Djemie, T., Endziniene, M., Hoffman-Zacharska, D., Jahn, J., Korff, C., Lehesjoki, A. -E., Marini, C., Muller, S. H., Pal, D., Schwarz, N., Selmer, K., Serratosa, J., Stephani, U., Sterbova, K., Suls, A., Syrbe, S., Talvik, I., Von Spiczak, S., Zara, F., Poduri, A., Weber, Y. G., Weckhuysen, S., Sisodiya, S. M., Daly, M. J., Helbig, I., Lal, D., Lemke, J. R.

المساهمون: Children's Hospital, Lastenneurologian yksikkö, Clinicum, University of Helsinki, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Research Programme for Molecular Neurology, Neuroscience Center, HUS Children and Adolescents, Genomics of Neurological and Neuropsychiatric Disorders, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center], Korff, Christian, EuroEPINOMICS RES Consortium

المصدر: bioRxiv. Cold Spring Harbor Labs Journals (2017).
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D, De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M, Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel, C, Dimova, P, Djémié, T, Endziniene, M, Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M, Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature genetics
Nature Genetics

مصطلحات موضوعية: Exome/genetics, Male, 0301 basic medicine, ILAE COMMISSION, Joint analysis, Neurodevelopmental Disorders/genetics, Bioinformatics, Epilepsy/genetics, Epilepsy, 0302 clinical medicine, Intellectual disability, SEQUENCE VARIANTS, Missense mutation, Epilepsy is a frequent feature, Exome, TERMINOLOGY, Disease gene, 0303 health sciences, ddc:618, medicine.diagnostic_test, Genetic Predisposition to Disease/genetics, Neurodevelopmental disorders, 1184 Genetics, developmental biology, physiology, HUMAN-DISEASE, PREVALENCE, 3. Good health, Genetic Variation/genetics, De novo variants, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Genetic Testing/methods, Disease Association, Biology, CLASSIFICATION, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Limited evidence, 030304 developmental biology, Genetic testing, business.industry, MUTATIONS, AUTISM SPECTRUM DISORDER, Genetic Variation, medicine.disease, Intellectual Disability/genetics, 030104 developmental biology, Neurodevelopmental Disorders, epilepsy, KCNQ2 ENCEPHALOPATHY, Human medicine, 3111 Biomedicine, business, Genetic diagnosis, 030217 neurology & neurosurgery

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https://doi.org/10.1038/s41588-018-0143-7