المؤلفون: Addis, L, Chiang, T, Clarke, T, Hardison, H, Kugler, S, Mandelbaum, D E, Novotny, E, Wolf, S, Strug, L J, Pal, D K

المصدر: Addis , L , Chiang , T , Clarke , T , Hardison , H , Kugler , S , Mandelbaum , D E , Novotny , E , Wolf , S , Strug , L J & Pal , D K 2014 , ' Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci ' , Genes, brain, and behavior , vol. 13 , no. 3 , pp. 333-340 . https://doi.org/10.1111/gbb.12110Test

مصطلحات موضوعية: Child, Preschool, Chromosomes, Human, Pair 1, Pair 17, Epilepsy, Rolandic, Genetic Loci, Genetic Pleiotropy, Humans, Lod Score, Migraine with Aura, Pedigree, Sodium-Potassium-Exchanging ATPase

الإتاحة: https://doi.org/10.1111/gbb.12110Test
https://kclpure.kcl.ac.uk/portal/en/publications/ea409b70-5f44-47b0-a0a1-d9ba62a951aeTest

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/s41588-018-0143-7Test
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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2198bc79a3e84e4458a790d2407b6e37Test
https://doi.org/10.1038/s41588-018-0143-7Test

المؤلفون: Tang, S., Hughes, E., Lascelles, K., Simpson, M. A., Pal, D. K.

المصدر: Tang, S, Hughes, E, Lascelles, K, Simpson, M A & Pal, D K 2016, ' New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.37935Test
American Journal of Medical Genetics. Part a

مصطلحات موضوعية: Comparative Genomic Hybridization, Clinical Report, Foot Deformities, Congenital, Genotype, DNA Mutational Analysis, Nicolaides-Baraitser syndrome, Facies, Infant, Electroencephalography, Epilepsies, Myoclonic, Exons, Hypotrichosis, Magnetic Resonance Imaging, Clinical Reports, Myoclonic astatic epilepsy, myoclonic astatic epilepsy, Phenotype, Intellectual Disability, Nicolaides–Baraitser syndrome, Mutation, SMARCA2, Humans, Female, Alleles, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f07814f58090cf9ed45d68dffda0cac0Test
https://kclpure.kcl.ac.uk/ws/files/61762159/Tang_et_al_2016_American_Journal_of_Medical_Genetics_Part_A.pdfTest

المؤلفون: Pal, D, Blair, H J, Elder, A, Dormon, K, Rennie, K J, Coleman, D J L, Weiland, J, Rankin, K S, Filby, A, Heidenreich, O, Vormoor, J

المصدر: Leukemia

مصطلحات موضوعية: Mice, A900, Cell Adhesion, Animals, Feeder Cells, Heterografts, Humans, Original Article, Drug Therapy, Combination, Mesenchymal Stem Cells, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Coculture Techniques, Clone Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e1315aaa2a644207dc97efacf4ef2fb9Test
https://nrl.northumbria.ac.uk/id/eprint/38781/1/leu201679.pdfTest

المؤلفون: CHATTOPADHYAY, UK, RATHORE, RS, PAL, D, DAS, MS

المصدر: Journal of Diarrhoeal Diseases Research, 1991 Mar 01. 9(1), 20-22.

الوصول الحر: https://www.jstor.org/stable/23498219Test

المؤلفون: Helge Rootwelt, Nils Tore Vethe, Stein Bergan, Sara Bremer, Pal-D. Line, Ingrid Rasmussen, Karsten Midtvedt, Randeep Mandla

المصدر: Transplantation. 85:55-61

مصطلحات موضوعية: Adult, CD4-Positive T-Lymphocytes, Graft Rejection, Male, medicine.medical_specialty, medicine.medical_treatment, Biology, Gene Expression Regulation, Enzymologic, Mycophenolic acid, IMP Dehydrogenase, Reticulocyte, IMP dehydrogenase, Internal medicine, medicine, Humans, Prospective Studies, Enzyme Inhibitors, Enzyme inducer, Aged, Whole blood, Immunosuppression Therapy, Transplantation, Immunosuppression, Middle Aged, Mycophenolic Acid, Kidney Transplantation, Isoenzymes, medicine.anatomical_structure, Endocrinology, biology.protein, Female, Glucocorticoid, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09dcd7a1b96a604fed53fb738a85064aTest
https://doi.org/10.1097/01.tp.0000296854.68123.03Test

المؤلفون: Pal, D K, Das, T, Chaudhury, G, Sengupta, S, McConachie, H

المصدر: Pal , D K , Das , T , Chaudhury , G , Sengupta , S & McConachie , H 2005 , ' Is social support sometimes a mixed blessing? ' , Child: Care Health and Development , vol. 31 , no. 3 , pp. 261-263 . https://doi.org/10.1111/j.1365-2214.2005.00515.xTest

مصطلحات موضوعية: Adolescent, Anticonvulsants, Attitude to Health, Child, Child Behavior Disorders, Epilepsy, Female, Humans, Male, Parents, Randomized Controlled Trials as Topic, Risk Factors, Rural Health, Social Support

الإتاحة: https://doi.org/10.1111/j.1365-2214.2005.00515.xTest
https://kclpure.kcl.ac.uk/portal/en/publications/401765cf-649f-424f-b2e4-d44e4d9b4a09Test

المؤلفون: Pal, D K, Durner, M, Greenberg, D A

المصدر: Pal , D K , Durner , M & Greenberg , D A 2001 , ' Effect of misspecification of gene frequency on the two-point LOD score ' , European Journal of Human Genetics , vol. 9 , no. 11 , pp. 855-859 . https://doi.org/10.1038/sj.ejhg.5200724Test

مصطلحات موضوعية: Computer Simulation, Female, Gene Frequency, Humans, Lod Score, Male, Models, Genetic, Nuclear Family

الإتاحة: https://doi.org/10.1038/sj.ejhg.5200724Test
https://kclpure.kcl.ac.uk/portal/en/publications/effect-of-misspecification-of-gene-frequency-on-the-twopoint-lod-scoreTest(74ae483c-c2ab-440d-9650-a345ad50d6af).html

المؤلفون: Pal, D K, Carpio, A, Sander, J W

المصدر: Pal , D K , Carpio , A & Sander , J W 2000 , ' Neurocysticercosis and epilepsy in developing countries ' , Journal of Neurology, Neurosurgery and Psychiatry , vol. 68 , no. 2 , pp. 137-43 . https://doi.org/10.1136/jnnp.68.2.137Test

مصطلحات موضوعية: Cost of Illness, Developing Countries, Epilepsy, Humans, Neurocysticercosis

الإتاحة: https://doi.org/10.1136/jnnp.68.2.137Test
https://kclpure.kcl.ac.uk/portal/en/publications/f8f67912-32f3-48af-9b63-483321f2877eTest

المؤلفون: Pal, D K, Das, T, Sengupta, S

المصدر: Pal , D K , Das , T & Sengupta , S 2000 , ' Case-control and qualitative study of attrition in a community epilepsy programme in rural India ' , Seizure , vol. 9 , no. 2 , pp. 119-123 . https://doi.org/10.1053/seiz.1999.0357Test

مصطلحات موضوعية: Adolescent, Case-Control Studies, Child, Preschool, Epilepsy, Female, Follow-Up Studies, Humans, India, Male, Patient Dropouts, Risk Factors, Rural Population, Severity of Illness Index

الإتاحة: https://doi.org/10.1053/seiz.1999.0357Test
https://kclpure.kcl.ac.uk/portal/en/publications/ca388be3-14d1-41bc-9223-6e81c647aaf7Test