المؤلفون: Sundaresan, Yogapriya^Aff13, Banin, Eyal^Aff13, Sharon, Dror^Aff13

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Ash, John D., editor^Aff7, Pierce, Eric, editor^Aff8, Anderson, Robert E., editor^Aff9, Bowes Rickman, Catherine, editor^Aff10, Hollyfield, Joe G., editor^Aff11, Grimm, Christian, editor^Aff12

المصدر: Retinal Degenerative Diseases XIX : Mechanisms and Experimental Therapy. 1415:183-187

المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)

مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/4/186; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27

المؤلفون: Qiyuan Li, Yuanyuan Zeng, Janet Wang, Hongkun Fang, Jintao Guo, Liying Yu, Taoling Zhong, Chaoqun Xu, Matthew Freedman, Thomas LaFramboise

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Allelic imbalance, Somatic selection, Exonic variants, Copy number, Cancer, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/c38e7daf598b4470a99d29756b39cfb0

المؤلفون: Li, Qiyuan^{Aff1, Aff2}, Zeng, Yuanyuan, Wang, Janet, Fang, Hongkun, Guo, Jintao, Yu, Liying, Zhong, Taoling, Xu, Chaoqun, Freedman, Matthew^{Aff6, Aff7, Aff8}, LaFramboise, Thomas^Aff4

المصدر: BMC Medical Genomics. 14(1)

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المؤلفون: Yuanyuan Zeng, Janet Wang, Liying Yu, Taoling Zhong, Hongkun Fang, Chaoqun Xu, Jintao Guo, Thomas LaFramboise, Qiyuan Li, Matthew L. Freedman

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Population, Single-nucleotide polymorphism, QH426-470, Biology, Somatic selection, medicine.disease_cause, Germline, Exonic variants, Genetics, medicine, SNP, Allelic imbalance, Allele, education, Internal medicine, Genetics (clinical), Cancer, education.field_of_study, Copy number, medicine.disease, RC31-1245, Allelic Imbalance, Carcinogenesis, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868e8d887cb7805f3aa8485cdb1fc1ae
http://europepmc.org/articles/PMC8166126

المؤلفون: Antoinette Amuzu, Noor Kalsheker, Sally Chappell, Miriam F Moffat, Elaine M. Dennison, Victoria E. Jackson, Tricia M. McKeever, Ian P. Hall, Tamar Guetta-Baranes, Christopher E. Brightling, Louise V. Wain, Lynne J. Hocking, Stuart G Parker, Jorgen Engmann, Charlotte E. Bolton, Kathleen Stirrups, Avan Aihie Sayer, Roger Tavendale, David J. Porteous, Ioanna Ntalla, Ian Sayers, Minkyoung Choi, Bethan Barker, David P. Strachan, Martin D. Tobin, Panos Deloukas, Sandosh Padmanabhan, Colin N. A. Palmer, Martin J. Connolly, Caroline Dale, Cyrus Cooper, Mona Bafadhel, Meena Kumari, Richard W Morris, Michelle John, John W. Holloway, Peter H. Whincup, Blair H. Smith, Andrew J. Wardlaw, Juan-Pablo Casas

المصدر: Jackson, V E, Ntalla, I, Sayers, I, Morris, R W, Whincup, P, Casas, JP, Amuzu, A, Choi, M, Dale, C, Kumari, M, Engmann, J E L, Kalsheker, N, Chappell, S, Guetta-Baranes, T, McKeever, T, Palmer, C N A, Tavendale, R, Holloway, J W, Sayer, A A, Dennison, E, Cooper, C, Bafadhel, M, Barker, B, Brightling, C, Bolton, C E, John, M E, Parker, S, Moffatt, M F, Wardlaw, AJ, Connolly, M, Porteous, DJ, Smith, B, Padmanabhan, S, Hocking, L, Stirrups, K, Deloukas, P, Strachan, D P, Hall, I P, Tobin, M D & Wain, L V 2016, ' Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 ', Thorax, vol. 71, no. 6, pp. 501-509 . https://doi.org/10.1136/thoraxjnl-2015-207876
Thorax
Jackson, V E, Ntalla, I, Sayers, I, Morris, R, Whincup, P, Casas, J-P, Amuzu, A, Choi, M, Dale, C, Kumari, M, Engmann, J, Kalsheker, N, Chappell, S, Guetta-Baranes, T, McKeever, T M, Palmer, C N A, Tavendale, R, Holloway, J W, Sayer, A A, Dennison, E M, Cooper, C, Bafadhel, M, Barker, B, Brightling, C, Bolton, C E, John, M E, Parker, S G, Moffat, M F, Wardlaw, A J, Connolly, M J, Porteous, D J, Smith, B H, Padmanabhan, S, Hocking, L, Stirrups, K E, Deloukas, P, Strachan, D P, Hall, I P, Tobin, M D & Wain, L V 2016, ' Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 ', Thorax . https://doi.org/10.1136/thoraxjnl-2015-207876

مصطلحات موضوعية: 0301 basic medicine, Pulmonary and Respiratory Medicine, Oncology, Male, medicine.medical_specialty, COPD, Airflow limitation, Low frequency exonic variants, Tobacco and the lung, Genotype, Chronic Obstructive Pulmonary Disease, Population, Genome-wide association study, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Risk Assessment, 03 medical and health sciences, Pulmonary Disease, Chronic Obstructive, 0302 clinical medicine, Internal medicine, Forced Expiratory Volume, medicine, SNP, Humans, Exome, education, Serpins, Genetic association, Aged, Genetics, COPD, education.field_of_study, business.industry, Smoking, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Nucleotidyltransferases, Obstructive lung disease, 3. Good health, respiratory tract diseases, Airway Obstruction, 030104 developmental biology, 030228 respiratory system, Sulfurtransferases, Female, business, COPD epidemiology, Genome-Wide Association Study

وصف الملف: application/pdf; text; PDF

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6097bda6973bb42a07c7294f7b89b31
https://openaccess.sgul.ac.uk/id/eprint/107731/1/Thorax-2016-Jackson-thoraxjnl-2015-207876.pdf

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المؤلفون: Ingo Helbig, Deb K. Pal

المصدر: Epilepsia

مصطلحات موضوعية: Genetics, Full-Length Original Research, Calcium-Binding Proteins, Myoclonic Epilepsy, Juvenile, Idiopathic epilepsy, Complex genetic disorders, Biology, Exonic variants, Neurology, Calcium-binding protein, Healthy individuals, Mutation (genetic algorithm), Mutation, Causative genetic variants, Ancestry-specific effects, Humans, Epilepsy, Generalized, Genetic Predisposition to Disease, Neurology (clinical), Disease prediction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea592afd5abfb3cbeef452030096018
https://pubmed.ncbi.nlm.nih.gov/25489633

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