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1دورية أكاديمية
المؤلفون: Hughes, Gareth
المصدر: GenOMICC Investigators , SCOURGE Consortium , ISARICC Investigators , The 23andMe COVID-19 Team , et al. , & Hughes , G 2023 , ' GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19. ' , Nature , vol. 617 , no. 7962 , pp. 764-768 . https://doi.org/10.1038/s41586-023-06034-3Test
مصطلحات موضوعية: COVID-19/genetics, Critical Illness, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Genotype, Genotyping Techniques, Humans, Monocytes/metabolism, Phenotype, Transcriptome, Whole Genome Sequencing, rab GTP-Binding Proteins/genetics
الإتاحة: https://doi.org/10.1038/s41586-023-06034-3Test
https://research.manchester.ac.uk/en/publications/dd8485cd-1879-4557-a33f-061bfb668bb4Test
http://europepmc.org/abstract/med/37198478Test -
2دورية أكاديمية
المؤلفون: Aziz, N. Ahmad, Wüllner, Ullrich
المصدر: Movement disorders 38(4), 703-705 (2023). doi:10.1002/mds.29341
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Parkinson Disease: drug therapy, Parkinson Disease: genetics, Mendelian Randomization Analysis, Disease Susceptibility, Genetic Variation: genetics, Genome-Wide Association Study, Risk Factors, Polymorphism, Single Nucleotide: genetics
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1531-8257; info:eu-repo/semantics/altIdentifier/pmid/pmid:36782054; info:eu-repo/semantics/altIdentifier/issn/0885-3185; https://pub.dzne.de/record/249931Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00246%22Test
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3دورية أكاديمية
المصدر: the 23 and Me Research Team 2022 , ' Genetic diversity fuels gene discovery for tobacco and alcohol use ' , Nature , vol. 612 , no. 7941 , pp. 720-724 . https://doi.org/10.1038/s41586-022-05477-4Test
مصطلحات موضوعية: Humans, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Genome-Wide Association Study/methods, Multifactorial Inheritance/genetics, Risk Factors, Tobacco Use/genetics, Alcohol Drinking/genetics, Transcriptome, Sample Size, Genetic Loci/genetics, Internationality, Europe/ethnology
وصف الملف: application/pdf
العلاقة: https://research-information.bris.ac.uk/en/publications/4c9cca53-e86f-4f52-90c7-6d9bd593aca8Test
الإتاحة: https://doi.org/10.1038/s41586-022-05477-4Test
https://hdl.handle.net/1983/4c9cca53-e86f-4f52-90c7-6d9bd593aca8Test
https://research-information.bris.ac.uk/en/publications/4c9cca53-e86f-4f52-90c7-6d9bd593aca8Test
https://research-information.bris.ac.uk/ws/files/353069497/s41586_022_05477_4.pdfTest -
4دورية أكاديمية
المصدر: Petersen , H C , Hansen , B W , Knott , K E & Banta , G T 2022 , ' Species and genetic diversity relationships in benthic macroinvertebrate communities along a salinity gradient ' , BMC Ecology and Evolution , vol. 22 , no. 1 , 125 . https://doi.org/10.1186/s12862-022-02087-6Test
مصطلحات موضوعية: Genetic diversity, Macrobenthos, Salinity, SGDC, Spatial and temporal patterns, Species diversity, Ultra-conserved elements, Animals, Ecosystem, Invertebrates/genetics, Biodiversity, Genetic Variation/genetics
وصف الملف: application/pdf
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/4a9b8095-45e1-4707-8a5f-2ee4e55e019fTest
الإتاحة: https://doi.org/10.1186/s12862-022-02087-6Test
https://portal.findresearcher.sdu.dk/da/publications/4a9b8095-45e1-4707-8a5f-2ee4e55e019fTest
https://findresearcher.sdu.dk/ws/files/213815069/s12862_022_02087_6_1_.pdfTest -
5دورية أكاديمية
المؤلفون: Loong, L., Garrett, A., Allen, S., Choi, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G. J., Robinson, R., Torr, B., Berry, I. R., Wallace, A. J., Eccles, D. M., Ellard, S., Baple, E., Evans, D. G., Woodward, E. R., Kulkarni, A., Lalloo, F., Tischkowitz, M., Lucassen, A., Hanson, H., Turnbull, C.
مصطلحات موضوعية: Genetic Predisposition to Disease, Genetic Testing, Genetic Variation/genetics, Humans, Laboratories, Neoplasms/diagnosis/genetics, Classification, Reclassification, Recontact, Reinterpretation, Variant
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00757-2; Genet Med. 2022 Sep;24(9):1867-1877. doi:10.1016/j.gim.2022.05.002. Epub 2022 Jun 3.; https://rde.dspace-express.com/handle/11287/622660Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.05.002Test
https://rde.dspace-express.com/handle/11287/622660Test -
6دورية أكاديمية
المؤلفون: Van der Auwera, Sandra, Klinger-König, Johanna, Wittfeld, Katharina, Terock, Jan, Hannemann, Anke, Bülow, Robin, Nauck, Matthias, Völker, Uwe, Völzke, Henry, Grabe, Hans Jörgen
المصدر: European archives of psychiatry and clinical neuroscience 272(8), 1505-1516 (2022). doi:10.1007/s00406-022-01420-w
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Receptors, Glucocorticoid: genetics, Hydrocortisone, Glucocorticoids, Hippocampus: diagnostic imaging, Hippocampus: metabolism, Genetic Variation: genetics, Gene Expression, DNA Methylation, Cortisol, Glucocorticoid receptor, Hippocampus, NR3C1, Verbal memory, rs56149945
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/0175-758X; info:eu-repo/semantics/altIdentifier/issn/1433-8491; info:eu-repo/semantics/altIdentifier/issn/0940-1334; info:eu-repo/semantics/altIdentifier/issn/0003-9373; info:eu-repo/semantics/altIdentifier/pmid/pmid:35579746; https://pub.dzne.de/record/164025Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00688%22Test
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7دورية أكاديمية
المؤلفون: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A, CanVIG-UK
المصدر: Loong , L , Cubuk , C , Choi , S , Allen , S , Torr , B , Garrett , A , Loveday , C , Durkie , M , Callaway , A , Burghel , GJ , Drummond , J , Robinson , R , Berry , IR , Wallace , A & CanVIG-UK 2021 , ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ' , Genetics in medicine : official journal of the American College of Medical Genetics , vol. 24 , no. 3 ....
مصطلحات موضوعية: BRCA1 Protein/genetics, Codon, Genetic Predisposition to Disease, Genetic Variation/genetics, Humans, MutS Homolog 2 Protein/genetics, Mutation, Missense/genetics
الإتاحة: https://doi.org/10.1016/j.gim.2021.11.011Test
https://research.manchester.ac.uk/en/publications/9c837d33-6960-497c-b033-87b06d1cd578Test -
8دورية أكاديمية
المؤلفون: Cuellar-Partida, G., Tung, J.Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O.A., Barroso, I., Beckmann, J.S., Boks, M.P., Boomsma, D.I., Boyd, H.A., Breteler, MMB, Campbell, H., Chasman, D.I., Cherkas, L.F., Davies, G., de Geus, EJC, Deary, I.J., Deloukas, P., Dick, D.M., Duffy, D.L., Eriksson, J.G., Esko, T., Feenstra, B., Geller, F., Gieger, C., Giegling, I., Gordon, S.D., Han, J., Hansen, T.F., Hartmann, A.M., Hayward, C., Heikkilä, K., Hicks, A.A., Hirschhorn, J.N., Hottenga, J.J., Huffman, J.E., Hwang, L.D., Ikram, M.A., Kaprio, J., Kemp, J.P., Khaw, K.T., Klopp, N., Konte, B., Kutalik, Z., Lahti, J., Li, X., Loos, RJF, Luciano, M., Magnusson, S.H., Mangino, M., Marques-Vidal, P., Martin, N.G., McArdle, W.L., McCarthy, M.I., Medina-Gomez, C., Melbye, M., Melville, S.A., Metspalu, A., Milani, L., Mooser, V., Nelis, M., Nyholt, D.R., O'Connell, K.S., Ophoff, R.A., Palmer, C., Palotie, A., Palviainen, T., Pare, G., Paternoster, L., Peltonen, L., Penninx, BWJH, Polasek, O., Pramstaller, P.P., Prokopenko, I., Raikkonen, K., Ripatti, S., Rivadeneira, F., Rudan, I., Rujescu, D., Smit, J.H., Smith, G.D., Smoller, J.W., Soranzo, N., Spector, T.D., Pourcain, B.S., Starr, J.M., Stefánsson, H., Steinberg, S., Teder-Laving, M., Thorleifsson, G., Stefánsson, K., Timpson, N.J., Uitterlinden, A.G., van Duijn, C.M., van Rooij, FJA, Vink, J.M., Vollenweider, P., Vuoksimaa, E., Waeber, G., Wareham, N.J., Warrington, N., Waterworth, D., Werge, T., Wichmann, H.E., Widen, E., Willemsen, G., Wright, A.F., Wright, M.J., Xu, M., Zhao, J.H., Kraft, P., Hinds, D.A., Lindgren, C.M., Mägi, R., Neale, B.M., Evans, D.M., Medland, S.E.
المصدر: Nature human behaviour, vol. 5, no. 1, pp. 59-70
مصطلحات موضوعية: Adult, Aged, Female, Functional Laterality/genetics, Gene Frequency/genetics, Genetic Loci/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Male, Middle Aged, Polymorphism, Single Nucleotide/genetics, Quantitative Trait, Heritable, Sex Factors
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32989287; info:eu-repo/semantics/altIdentifier/eissn/2397-3374; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E7424914D13E8; https://serval.unil.ch/notice/serval:BIB_E7424914D13ETest; urn:issn:2397-3374; https://serval.unil.ch/resource/serval:BIB_E7424914D13E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E7424914D13E8Test
الإتاحة: https://doi.org/10.1038/s41562-020-00956-yTest
https://serval.unil.ch/notice/serval:BIB_E7424914D13ETest
https://serval.unil.ch/resource/serval:BIB_E7424914D13E.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E7424914D13E8Test -
9دورية أكاديمية
المؤلفون: Wolking, Stefan, Moreau, Claudia, McCormack, Mark, Krause, Roland, Krenn, Martin, EpiPGx Consortium, Berkovic, Samuel F, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Johnson, Michael R, Koeleman, B.P.C., Kunz, Wolfgang Gerhard, Lerche, Holger, Marson, Anthony Guy, O'Brien, Terence, Petrovski, Slave, Sander, Josemir W, Sills, Graeme, Striano, Pasquale, Zara, Federico, Zimprich, Fritz, Sisodiya, Sanjay M, Girard, S, Cossette, Patrick
المصدر: Annals of clinical and translational neurology, 8 (7
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Cohort Studies, Drug Resistant Epilepsy -- diagnosis -- genetics, Female, Genetic Association Studies -- methods, Genetic Variation -- genetics, Humans, Male, Polymorphism, Single Nucleotide -- genetics, Exome Sequencing -- methods
وصف الملف: 2 full-text file(s): application/pdf | application/pdf
العلاقة: uri/info:doi/10.1002/acn3.51374; uri/info:pmid/34018700; uri/info:scp/85106975765; uri/info:pmcid/PMC8283173; https://dipot.ulb.ac.be/dspace/bitstream/2013/364690/1/PMC8283173.pdfTest; https://dipot.ulb.ac.be/dspace/bitstream/2013/364690/5/ACN3-8-1376.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/364690Test
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10دورية أكاديمية
المؤلفون: Ancien, F., Pucci, Fabrizio, Rooman, Marianne
المصدر: International journal of molecular sciences, 22 (9
مصطلحات موضوعية: Chimie organique, Spectroscopie [électromagnétisme, optique, acoustique], Spectroscopie [état condense], Biologie moléculaire, Catalyses hétérogène et homogène, Physico-chimie générale, Chimie théorique, Chimie inorganique, Informatique appliquée logiciel, Computer Simulation, Databases, Genetic, Exons -- genetics, Genetic Variation -- genetics, Humans, Mutation -- genetics, Niemann-Pick Diseases -- genetics -- metabolism, Phenotype, Severity of Illness Index, Sphingolipids -- genetics -- metabolism, Sphingomyelin Phosphodiesterase -- genetics -- metabolism, Disease severity prediction, Genetic variants, Niemann-Pick disease, Parkinson disease, Sphingomyelin phosphodiesterase
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.3390/ijms22094516; uri/info:pii/ijms22094516; uri/info:pmid/33925997; uri/info:scp/85104609171; uri/info:pmcid/PMC8123603; https://dipot.ulb.ac.be/dspace/bitstream/2013/325010/1/doi_308654.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/325010Test
