المؤلفون: Benjamin S, Ambikapathy, Lal D, Sowmi Sri

المصدر: International Journal of Research in Pharmaceutical Sciences. 11:171-174

مصطلحات موضوعية: Rehabilitation, business.industry, medicine.medical_treatment, Psychological intervention, Cognition, medicine.disease, Mental health, Social relation, Developmental disorder, Quality of life, Autism spectrum disorder, medicine, General Pharmacology, Toxicology and Pharmaceutics, business, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4f6846ef644908992898f73c3d221178
https://doi.org/10.26452/ijrps.v11ispl2.2192

المؤلفون: Porchelvan S, Arul Devi, Jakkampudi NagaSravani, Lal D

المصدر: International Journal of Research in Pharmaceutical Sciences. 11:181-186

مصطلحات موضوعية: Occupational therapy, medicine.medical_specialty, business.industry, Psychological intervention, Special needs, medicine.disease, Screen time, Autism spectrum disorder, Communication disorder, medicine, Autism, General Pharmacology, Toxicology and Pharmaceutics, business, Nuclear family, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3c5d0f2209513b73627b7f8ed99b7ebb
https://doi.org/10.26452/ijrps.v11ispl2.2198

المؤلفون: Leu C., Stevelink R., Smith A. W., Goleva S. B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S. M., Cavalleri G. L., Koeleman B. P. C., Lerche H., Jehi L., Davis L. K., Najm I. M., Palotie A., Daly M. J., Busch R. M., Lal D., Feng Y. -C. A., Howrigan D. P., Abbott L. E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B. M., Berkovic S. F., Goldstein D. B., Lowenstein D. H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E. L., Helbig I., Kwan P., Marson A. G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D. J., Scheffer I. E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B. M., Bellows S. T., Bennett C. A., Johns E. M. C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T. J., Todaro M., Stamberger H., Andrade D. M., Sadoway T. R., Mo K., Krestel H., Gallati S., Papacostas S. S., Kousiappa I., Tanteles G. A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K. M., Rosenow F., Reif P. S., Knake S., Kunz W. S., Zsurka G., Elger C. E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A. D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J. R., Krey I., Weber Y. G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A. F., Steinhoff B. J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C. J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A. -E., Rees M. I., Chung S. -K., Pickrell W. O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M. R., Auce P., Sills G. J., Baum L. W., Sham P. C., Cherny S. S., Lui C. H. T., Barisic N., Delanty N., Doherty C. P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M. S., Mancardi M. M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L. G., King C., Mountier E., Caglayan S. H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B. R., Shain C., Poduri A., Buono R. J., Ferraro T. N., Sperling M. R., Lo W., Privitera M., French J. A., Schachter S., Kuzniecky R. I., Devinsky O., Hegde M., Khankhanian P., Helbig K. L., Ellis C. A., Spalletta G., Piras F., Gili T., Ciullo V.

المساهمون: Leu C., Stevelink R., Smith A.W., Goleva S.B., Kanai M., Ferguson L., Campbell C., Kamatani Y., Okada Y., Sisodiya S.M., Cavalleri G.L., Koeleman B.P.C., Lerche H., Jehi L., Davis L.K., Najm I.M., Palotie A., Daly M.J., Busch R.M., Lal D., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Churchhouse C., Gupta N., Neale B.M., Berkovic S.F., Goldstein D.B., Lowenstein D.H., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bellows S.T., Bennett C.A., Johns E.M.C., Macdonald A., Shilling H., Burgess R., Weckhuysen D., Bahlo M., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Sadoway T.R., Mo K., Krestel H., Gallati S., Papacostas S.S., Kousiappa I., Tanteles G.A., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Kunz W.S., Zsurka G., Elger C.E., Bauer J., Rademacher M., Pendziwiat M., Muhle H., Rademacher A., Van Baalen A., Von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Hengsbach C., Rau S., Maisch A.F., Steinhoff B.J., Schulze-Bonhage A., Schubert-Bast S., Schreiber H., Borggrafe I., Schankin C.J., Mayer T., Korinthenberg R., Brockmann K., Dennig D., Madeleyn R., Kalviainen R., Auvinen P., Saarela A., Linnankivi T., Lehesjoki A.-E., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Barisic N., Delanty N., Doherty C.P., Shukralla A., McCormack M., El-Naggar H., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Zara F., Iacomino M., Madia F., Vari M.S., Mancardi M.M., Salpietro V., Bisulli F., Tinuper P., Licchetta L., Pippucci T., Stipa C., Muccioli L., Minardi R., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Marini C., Suzuki T., Inoue Y., Yamakawa K., Birute T., Ruta M., Algirdas U., Ruta P., Jurgita G., Ruta S., Sadleir L.G., King C., Mountier E., Caglayan S.H., Arslan M., Yapici Z., Yis U., Topaloglu P., Kara B., Turkdogan D., Gundogdu-Eken A., Bebek N., Ugur-Iseri S., Baykan B., Salman B., Haryanyan G., Yucesan E., Kesim Y., Ozkara C., Sheidley B.R., Shain C., Poduri A., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Khankhanian P., Helbig K.L., Ellis C.A., Spalletta G., Piras F., Gili T., Ciullo V., Commission of the European Communities, Medical Research Council (MRC), Tumienė, Birutė, Mameniškienė, Rūta, Utkus, Algirdas, Praninskienė, Rūta, Grikinienė, Jurgita, Samaitienė-Aleknienė, Rūta, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Institute for Molecular Medicine Finland, Genomics of Neurological and Neuropsychiatric Disorders, University of Helsinki, Helsinki Institute of Life Science HiLIFE, Department of Medical and Clinical Genetics

المصدر: Brain
142 (2019): 3473–3481. doi:10.1093/brain/awz292
info:cnr-pdr/source/autori:Leu, Costin; Stevelink, Remi; Smith, Alexander W.; Goleva, Slavina B.; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M.; Cavalleri, Gianpiero L.; Koeleman, Bobby P.C.; Lerche, Holger; Jehi, Lara; Davis, Lea K.; Najm, Imad M.; Palotie, Aarno; Daly, Mark J.; Busch, Robyn M.; Lal, Dennis; Feng, Yen Chen Anne; Howrigan, Daniel P.; Abbott, Liam E.; Tashman, Katherine; Cerrato, Felecia; Churchhouse, Claire; Gupta, Namrata; Neale, Benjamin M.; Berkovic, Samuel F.; Goldstein, David B.; Lowenstein, Daniel H.; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Hakonarson, Hakon; Heinzen, Erin L.; Helbig, Ingo; Kwan, Patrick; Marson, Anthony G.; Petrovski, Slavé; Kamalakaran, Sitharthan; Stewart, Randy; Weckhuysen, Sarah; Depondt, Chantal; Dlugos, Dennis J.; Scheffer, Ingrid E.; Striano, Pasquale; Freyer, Catharine; Krause, Roland; May, Patrick; McKenna, Kevin; Regan, Brigid M.; Bellows, Susannah T.; Bennett, Caitlin A.; Johns, Esther M.C.; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O'Brien, Terence J.; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M.; Sadoway, Tara R.; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S.; Kousiappa, Ioanna; Tanteles, George A.; ?terbová, Katalin; Vlcková, Markéta; Sedlácková, Lucie; La??uthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S.; Knake, Susanne; Kunz, Wolfram S.; Zsurka, Gábor; Elger, Christian E.; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; Van Baalen, Andreas; Von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D.; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin/titolo:Polygenic burden in focal and generalized epilepsies/doi:10.1093%2Fbrain%2Fawz292/rivista:Brain (Print)/anno:2019/pagina_da:3473/pagina_a:3481/intervallo_pagine:3473–3481/volume:142
Brain, Oxford : Oxford university press, 2019, vol. 142, no. 11, p. 3473-3481
Brain : a journal of neurology, 142(11), 3473. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, Multifactorial Inheritance, Epi25 Consortium, Databases, Factual, FEATURES, Genome-wide association study, Epilepsies, 3124 Neurology and psychiatry, Cohort Studies, Epilepsy, 0302 clinical medicine, Cost of Illness, 1ST SEIZURE, HISTORY, genetics, POPULATION, 11 Medical and Health Sciences, education.field_of_study, medicine.diagnostic_test, SCORES, Single Nucleotide, Biobank, 3. Good health, 17 Psychology and Cognitive Sciences, Genetic generalized epilepsy, Epilepsy, Generalized, Female, Partial, Cohort study, Human, medicine.medical_specialty, Population, European Continental Ancestry Group, Clinical Neurology, BIOBANK, Polymorphism, Single Nucleotide, epilepsy, genetic generalized epilepsy, common variant risk, Databases, 03 medical and health sciences, Genetic, Internal medicine, medicine, Journal Article, Genetics, Humans, Genetic Predisposition to Disease, Polymorphism, GENOME-WIDE ASSOCIATION, Generalized epilepsy, education, SEIZURE RECURRENCE, Factual, METAANALYSIS, Genetic testing, Neurology & Neurosurgery, RISK PREDICTION, Generalized, business.industry, 3112 Neurosciences, Common variant risk, Genetic Variation, Original Articles, medicine.disease, Comorbidity, Cost of Illne, Epilepsies, Partial, Genome-Wide Association Study, 030104 developmental biology, Neurology (clinical), Cohort Studie, business, 030217 neurology & neurosurgery

وصف الملف: STAMPA; application/pdf; text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129fa8e77fb23e3aa43684d166282437
http://hdl.handle.net/11585/792965

المؤلفون: Driscoll T, Steenland K, Pearce N, Rushton L, Hutchings S, Straif K, Abate D, Acharya D, Agrawal A, Alahdab F, Alene K, Androudi S, Anjomshoa M, Antonio C, Aremu O, Ataro Z, Badaw A, Banoub J, Barker-Collo S, Bedi N, Bennett D, Bernstein R, Beuran M, Bhattacharyya K, Bijani A, Butt Z, Carrero J, Castaneda-Orjuela C, Chimed-Ochir O, Dandona L, Dandona R, Dang A, Daryani A, Desalegn B, Dharmaratne S, Djalalinia S, Dubljanin E, Ebrahimpour S, El-Khatib Z, Fareed M, Faro A, Fernandes E, Fischer F, Fukumoto T, Gallus S, Gebremichae T, Gezae K, Grada A, Guo Y, Gupta R, Haj-Mirzaian A, Hamidi S, Hasan M, Hasankhani M, Hay S, Hoang C, Hole M, Hosgood H, Hostiuc M, Hostiuc S, Irvani S, Islam S, Jakovljevic M, Jha R, Jonas J, Kahsay A, Kasaeian A, Kawakami N, Khader Y, Khafaie M, Khan E, Khosravi M, Khubchandani J, Kim Y, Kimokoti R, Kisa A, Kogevinas M, Kosen S, Koul P, Koyanagi A, Defo B, Kumar G, Lal D, Latif A, Leigh J, Levi M, Li S, Linn S, Mahotra N, Majdan M, Malekzadeh R, Mansournia M, Martins-Melo F, Massenburg B, Mehta V, Melese A, Melku M, Memish Z, Mendoza W, Meretoja T, Mestrovic T, Mini G, Mirrakhimov E, Moazen B, Mezerji N, Mohammed S, Mokdad A, Monasta L, Moodley Y, Moosazadeh M, Moradi G, Morawska L, Morrison S, Mousav S, Mustafa G, Nangia V, Nego I, Negoi R, Nguyen C, Nguyen T, Nixon M, Ofori-Asenso R, Ogbo F, Olagunju A, Olusanya B, Mahesh P, Panda-Jonas S, Park E, Pati S, Qorbani M, Rafay A, Rafiei A, Rahim F, Rahimi-Movaghar V, Rajati F, Reiner R, Rezaei S, Roever L, Ronfani L, Roshandel G, Saddik B, Safir S, Sahraian M, Samy A, Schwebel D, Sepanlou S, Serdar B, Shaikh M, Sheikh A, Shigematsu M, Shiri R, Shirkoohi R, Si S, Silva J, Sinha D, Soofi M, Soriano J, Sreeramareddy C, Stanaway J, Stokes M, Sufiyan M, Sutradhar I, Tabares-Seisdedos R, Takahashi K, Tefera Y, Temsah M, Tovani-Palone M, Tran B, Tran K, Car L, Ullah I, Valdez P, van Boven J, Vasankari T, Violante F, Vu G, Wagner G, Waheed Y, Wang Y, Yirsaw B, Yonemoto N, Yu C, Zamani M, Lim S, GBD 2016 Occupational Chronic

المساهمون: Collaborators, GBD 2016 Occupational Chronic Respiratory Risk Factors, GBD 2016 Occupational Chronic Respiratory Risk Factors Collaborator, Violante FS, Groningen Research Institute for Asthma and COPD (GRIAC), Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET), Value, Affordability and Sustainability (VALUE)

المصدر: Sheikh, A 2020, ' Global and regional burden of chronic respiratory disease in 2016 arising from non-infectious airborne occupational exposures: a systematic analysis for the Global Burden of Disease Study 2016 ', Occupational and Environmental Medicine, vol. 77, no. 3, pp. 142-150 . https://doi.org/10.1136/oemed-2019-106013
OCCUPATIONAL AND ENVIRONMENTAL MEDICINE
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
OCCUPATIONAL AND ENVIRONMENTAL MEDICINE, 77(3), 142-150. BMJ PUBLISHING GROUP
Occupational and Environmental Medicine

مصطلحات موضوعية: pneumoconiosis, Population, GBD 2016 occupational chronic respiratory risk factors collaborators, OBSTRUCTIVE PULMONARY-DISEASE, Environmental & Occupational Health, 1117 Public Health and Health Services, 03 medical and health sciences, 0302 clinical medicine, 1599 Other Commerce, Management, Tourism and Services, Environmental health, METABOLIC RISKS, Medicine, COPD, 030212 general & internal medicine, Workplace, education, Public, Environmental & Occupational Health, Cause of death, Asthma, WORK, education.field_of_study, Science & Technology, ONSET ASTHMA, business.industry, STATEMENT, Pneumoconiosis, Public Health, Environmental and Occupational Health, 1103 Clinical Sciences, occupational exposure, medicine.disease, 3. Good health, Quality-adjusted life year, PREVALENCE, occupational asthma, work, 030228 respiratory system, Relative risk, Attributable risk, COMPARATIVE RISK-ASSESSMENT, NA, business, CLUSTERS, Life Sciences & Biomedicine, LUNG

وصف الملف: application/pdf; ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d18544ad348cf0e882cf395c9e243fca
https://hdl.handle.net/20.500.11820/ae1328f5-9659-4a9b-ad7d-25ef3898f367

المؤلفون: Sarihan, E.I., Pérez Palma, E., Niestroj, L.M., Loesch, D., Inca Martinez, M., Horimoto, A.R.V.R., Cornejo Olivas, M., Torres, L., Mazzetti, P., Cosentino, C., Sarapura Castro, E., Rivera Valdivia, A., Dieguez, E., Raggio, V., Lescano, Andrés, Tumas, V., Borges, V., Ferraz, H.B., Rieder, C.R., Schumacher Schuh, A.F., Santos Lobato, B.L., Velez Pardo, C., Jimenez Del-Rio, M., Lopera, F., Moreno, S., Chana Cuevas, P., Fernandez, W., Arboleda, G., Arboleda, H., Arboleda Bustos, C.E., Yearout, D., Zabetian, C.P., Thornton, T.A., O'Connor, T.D., Lal, D., Mata, I.F., Micheli, F., Gatto, E., Shumacher Schuh, A., Chaná, P., Jimenez-Del-Rio, M., Orozco, J.L., Fornaguera, J., Guillén, A.H., Acosta, G.T., Chang Castello, J., Muñoz, B.A., Medina, A., Ferrera, A., Martinez Ramirez, D., Rodriguez, M., Sarapura, H., Rivera, A., Viñuela, A., Lescano, A., Amorin, I., Latin American Research Consortium on the Genetics of Parkinson's Disease

المصدر: Mov Disord
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, DNA Copy Number Variations, purl.org/pe-repo/ocde/ford#3.02.25 [https], Population, Genome wide analysis, Disease, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, genetics, Copy-number variation, Age of Onset, education, Genotyping, education.field_of_study, Latin America, business.industry, copy number variants, Parkinson Disease, Odds ratio, Hispanic or Latino, Middle Aged, medicine.disease, GENÉTICA, 030104 developmental biology, Neurology, Cohort, Neurology (clinical), business, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34038248db5b9c0ec427659273cb79d5
https://hdl.handle.net/20.500.12866/9173

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

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198bc79a3e84e4458a790d2407b6e37
https://doi.org/10.1038/s41588-018-0143-7

المؤلفون: Manmeet Kaur Gill, Amit Gupta, Goyal, Lal D, Gupta O

المصدر: Journal of Clinical and Diagnostic Research, Vol 11, Iss 3, Pp WC06-WC09 (2017)

مصطلحات موضوعية: Dermatology Section, antihistamines, Ebastine, medicine.medical_specialty, Sedation, Clinical Biochemistry, lcsh:Medicine, Levocetirizine, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Outpatient clinic, tolerability, Desloratadine, Fexofenadine, business.industry, lcsh:R, General Medicine, Dermatology, Cetirizine, darrier sign, 030228 respiratory system, Tolerability, medicine.symptom, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1445849d880f320845b0bc7f13d94926
https://doi.org/10.7860/jcdr/2017/23961.9550

المؤلفون: Shaji Sidney, Mohan Lal D

المصدر: 2016 International Conference on Energy Efficient Technologies for Sustainability (ICEETS).

مصطلحات موضوعية: Exergy, Controlled environment chamber, Engineering, Regulated power supply, business.industry, 020209 energy, Nuclear engineering, Photovoltaic system, Refrigerator car, Electrical engineering, Refrigeration, 02 engineering and technology, 0202 electrical engineering, electronic engineering, information engineering, business, Condenser (heat transfer), Evaporator

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1a2a7a11c6083cfec4868a24de715900
https://doi.org/10.1109/iceets.2016.7582941

المؤلفون: Lal, D., Reinthaler, E. M., Dejanovic, B., May, P., Thiele, H., Lehesjoki, A. . E., Schwarz, G., Riesch, E., Ikram, M. A., Van Duijn, C. M., Uitterlinden, A. G., Hofman, A., Steinböck, H., Gruber sedlmayr, U., Neophytou, B., Zara, F., Hahn, A., Gormley, P., Becker, F., Weber, Y. G., Cilio, M. R., Kunz, W. S., Krause, R., Zimprich, F., Lemke, J. R., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B. A., Palotie, A., Ruppert, A. K., Suls, A., Siren, A., Koeleman, B., Haberlandt, E., Ronen, G. M., Caglayan, H., Hjalgrim, H., Muhle, H., Schulz, H., Helbig, I., Altmüller, J., Geldner, J., Schubert, J., Jabbari, K., Everett, K., Feucht, M., Balestri, M., Nothnagel, M., Striano, Pasquale, Møller, R. S., Nabbout, R., Balling, R., Baulac, S., Bianchi, A., La Neve, A., Minetti, Carlo, Giuseppe, C.

المساهمون: Neuroscience Center, Research Programs Unit, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Epidemiology, Neurology, Radiology & Nuclear Medicine, Internal Medicine, 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]

المصدر: PLoS One (print), 11(3). Public Library of Science
PLoS ONE
PLoS ONE. San Franscisco, CA: Public Library of Science (2016).
Lal, D, Reinthaler, E M, Dejanovic, B, May, P, Thiele, H, Lehesjoki, A-E, Schwarz, G, Riesch, E, Ikram, M A, van Duijn, C M, Uitterlinden, A G, Hofman, A, Steinböck, H, Gruber-Sedlmayr, U, Neophytou, B, Zara, F, Hahn, A, Gormley, P, Becker, F, Weber, Y G, Cilio, M R, Kunz, W S, Krause, R, Zimprich, F, Lemke, J R, Nürnberg, P, Sander, T, Lerche, H, Neubauer, B A, Genetic Commission of the Italian League against Epilepsy, Hjalgrim, H & Møller, R S 2016, ' Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes ', P L o S One, vol. 11, no. 3, e0150426 . https://doi.org/10.1371/journal.pone.0150426
PLoS ONE, Vol 11, Iss 3, p e0150426 (2016)

مصطلحات موضوعية: 0301 basic medicine, Male, Genetics and Molecular Biology (all), FEBRILE SEIZURES PLUS, Disease, Pathogenesis, Bioinformatics, Pathology and Laboratory Medicine, Biochemistry, Epilepsy, Database and Informatics Methods, 0302 clinical medicine, Risk Factors, Medicine and Health Sciences, Medicine, SCN1A, Myoclonic Seizures, NEURONAL SODIUM-CHANNEL, MUTATION, Multidisciplinary, SEVERE MYOCLONIC EPILEPSY, Research Support, Non-U.S. Gov't, Medicine (all), Syndrome, Clinical Trial, 3. Good health, PREVALENCE, Multicenter Study, Neurology, Cohort, Female, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Sequence Analysis, DRAVET SYNDROME, Research Article, Science, Mutation, Missense, Amino Acid Substitution, Case-Control Studies, Humans, NAV1.1 Voltage-Gated Sodium Channel, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), GENERALIZED EPILEPSY, Sequence Databases, Research and Analysis Methods, ITALIAN PATIENTS, 03 medical and health sciences, Dravet syndrome, Journal Article, Genetics, HEMIPLEGIC MIGRAINE, Tonic-Clonic Seizures, Generalized epilepsy, Molecular Biology Techniques, Sequencing Techniques, Molecular Biology, business.industry, Case-control study, 3112 Neurosciences, Biology and Life Sciences, Human Genetics, Epileptic Seizures, medicine.disease, GENE, Human genetics, 030104 developmental biology, Biological Databases, Epilepsy syndromes, Mutation Databases, Genetics of Disease, 3111 Biomedicine, Missense, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fe84aefa145b24319f7a4d235e944dd
http://hdl.handle.net/10138/161347

المؤلفون: B. P. Das, Lal D. Mishra

المصدر: Journal of neurosurgical anesthesiology. 28(4)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Unusual case, business.industry, Anesthetic management, Ophthalmologic Surgical Procedures, medicine.disease, Surgery, 03 medical and health sciences, 030104 developmental biology, Anesthesiology and Pain Medicine, Anesthesia, Child, Preschool, Medicine, Humans, Hypnotics and Sedatives, Retinal Telangiectasis, Neurology (clinical), Coats' disease, Dexmedetomidine, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd2e7faa1e5c3721744a3fdcbedf1887
https://pubmed.ncbi.nlm.nih.gov/26237668