المؤلفون: Xicui Long, Wenyu Xiong, Xuegang Wang, Jia Geng, Mingjun Zhong, Yu Huang, Man Liu, Fengxiao Bu, Jing Cheng, Yu Lu, Huijun Yuan

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: ABHD12, PHARC syndrome, Genotype-phenotype associations, Cochlear implant, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/e9a03254ab4e479e9ed0efd5ccfed104

المؤلفون: Sarah M. Alghamdi, Robert Hoehndorf

المصدر: Journal of Biomedical Semantics, Vol 14, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Cardinality phenotypes, Phenotype ontologies, Genotype–phenotype associations, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1480

URL الوصول: https://doaj.org/article/c2f6983072124d909fac203dab9ffd52

المؤلفون: Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas

المساهمون: Genetica, Genetica Klinische Genetica, Brain, Genetica Oper.Mang. Clinical Genetics, Child Health

مصطلحات موضوعية: Dravet syndrome, GEFS+, genotype–phenotype associations, SCN1A, severe myoclonic epilepsy of infancy, Neurology, Clinical Neurology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454752

الاتاحة: https://dspace.library.uu.nl/handle/1874/454752

المؤلفون: Méndez Cea, Belén, García García, Isabel, Sánchez Salguero, Raúl, Lechuga, Víctor, Gallego Rodríguez, Francisco Javier, Linares, Juan C.

مصطلحات موضوعية: 551.588, 581.5, 581.15, Abies marocana, Drought sensitivity, Tree age, Selection signature, Genotype–phenotype associations, Dendrochronology, Fisiología vegetal (Biología), Botánica (Biología), 2417.19 Fisiología Vegetal, 2417.02 Dendrología

وصف الملف: application/pdf

Relation: (TED2021-129770B-C22 , PID2021-123675OB-C44); PAIDI-P18-RT-1170; https://www.mdpi.com/2223-7747/12/4/873; https://hdl.handle.net/20.500.14352/88202

الاتاحة: https://hdl.handle.net/20.500.14352/88202
https://doi.org/10.3390/plants12040873
https://www.mdpi.com/2223-7747/12/4/873

المؤلفون: Méndez-Cea, Belén, García-García, Isabel, Gazol Burgos, Antonio, Camarero, Jesús Julio, González de Andrés, Ester, Colangelo, Michele, Valeriano, Cristina, Gallego, Francisco Javier, Linares, Juan Carlos

المساهمون: Universidad Complutense de Madrid, Gobierno de Aragón, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), CSIC - Instituto de Recursos Naturales y Agrobiología de Salamanca (IRNASA), Junta de Castilla y León, Gazol Burgos, Antonio, Camarero, Jesús Julio, González de Andrés, Ester, Colangelo, Michele, Valeriano, Cristina

مصطلحات موضوعية: Rear edge, Treeline, Selection signature, Genotype-environment associations, Genotype-phenotype associations, Risk of non-adaptedness

وصف الملف: application/pdf

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI//RTI2018–096884-B-C31; Publisher's version; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.scitotenv.2022.159778; https://doi.org/10.1016/j.scitotenv.2022.159778; Sí; Science of the Total Environment 858(Part 2): 159778 (2023); http://hdl.handle.net/10261/345131

الاتاحة: http://hdl.handle.net/10261/345131
https://doi.org/10.1016/j.scitotenv.2022.159778

المؤلفون: Joanna Baker, Andrew Meade, Chris Venditti

المصدر: BMC Biology, Vol 19, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Testes size, Genotype-phenotype associations, Evolutionary rates, Phylogenetic comparative methods, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7007

URL الوصول: https://doaj.org/article/70e800fe0503423fbbe68d407080bcc3

المؤلفون: Rodríguez-Verdugo, Alejandra, Carrillo-Cisneros, David, González-González, Andrea, Gaut, Brandon S, Bennett, Albert F

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 111(33)

مصطلحات موضوعية: Genetics, Prevention, Biotechnology, Adaptation, Physiological, Escherichia coli, Genotype, Hot Temperature, Stress, Physiological, RNA polymerase, Rho factor, genotype-phenotype associations, experimental evolution, genotype–phenotype associations

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8cs0s3nc

المؤلفون: Levy, Tess, Foss-Feig, Jennifer, H, Betancur, Catalina, Siper, Paige, M, Trelles-Thorne, Maria, del Pilar, Halpern, Danielle, Frank, Yitzchak, Lozano, Reymundo, Layton, Christina, Britvan, Bari, Bernstein, Jonathan, A, Buxbaum, Joseph, D, Berry-Kravis, Elizabeth, Powell, Craig, M, Srivastava, Siddharth, Sahin, Mustafa, Soorya, Latha, Thurm, Audrey, Kolevzon, Alexander

المساهمون: Icahn School of Medicine at Mount Sinai New York (MSSM), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Stanford University, Rush University Medical Center Chicago, University of Texas Southwestern Medical Center Dallas, Boston Children's Hospital, Harvard Medical School Boston (HMS), National Institute of Mental Health (NIMH), National Institutes of Health Bethesda, MD, USA (NIH), National Institute of Neurological Disorders and Stroke (U54 NS092090, R01NS105845) and the Intramural Research Program of the NIMH (1ZICMH002961)

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: Phelan-McDermid syndrome, SHANK3, genotype–phenotype associations, deletion, sequence variant, Autism spectrum disorder, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/34559195; PUBMED: 34559195; PUBMEDCENTRAL: PMC8863417

الاتاحة: https://inserm.hal.science/inserm-03949862
https://inserm.hal.science/inserm-03949862v1/document
https://inserm.hal.science/inserm-03949862v1/file/Levy%20PMS%20Hum%20Mol%20Genet%202022.pdf
https://doi.org/10.1093/hmg/ddab280

المؤلفون: Jinkuk Hong, Leann DaWalt, Mei Wang Baker, Elizabeth M. Berry-Kravis, Marsha R. Mailick

المصدر: Frontiers in Psychiatry, Vol 12 (2021)

مصطلحات موضوعية: FMR1 CGG repeats, genotype-phenotype associations, genetic epidemiology, population cohorts, normal genetic variation, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2021.727085/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/758cf89a24dc456b96f8cde21cea5133

المؤلفون: Asif, Muhammad

المساهمون: Moura Vicente, Astrid, Moreira Couto, Francisco José, Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Autism Spectrum Disorder (ASD), Systems Medicine, Genotype/phenotype Associations, Machine Learning, Perturbações do Desenvolvimento Infantil e Saúde Mental, Autismo, Perturbação do Espectro do Autismo (PEA), Medicina de Sistemas, Associação de Genótipo/fenótipo, Algoritmo de Aprendizagem Automática

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10400.18/5828

المؤلفون: Durán, Mónica, Burballa Tàrrega, Carla, 1988-, Cantero Recasens, Gerard, 1984-, Butnaru, Cristian M., Malhotra, Vivek, Ariceta, Gema, Sarró, Eduard, Meseguer Navarro, Anna

مصطلحات موضوعية: Phenotype, Proteinuria, Mutation, Cell proliferation, Extracellular matrix, Albumins, Kidney failure, Chronic, Epithelium, Homeostasis, Hypercalciuria, Adhesions, Anions, Antiporter, Cell lines, Cell motility, Endocytosis, Gene expression profiling, Genes, Kidney tubules, Proximal, Molecular mass, Nephrocalcinosis, Kidney, Nephrolithiasis, X-linked inheritance, Dent's disease, Acids, Organic genotype-phenotype associations, Kidney development

وصف الملف: application/pdf

Relation: Hum Mol Genet. 2021 Jul 9;30(15):1413-28; info:eu-repo/grantAgreement/ES/1PE/SAF2014-59945-R; info:eu-repo/grantAgreement/ES/2PE/SAF2017-89989-R; http://hdl.handle.net/10230/52772; http://dx.doi.org/10.1093/hmg/ddab131

الاتاحة: http://hdl.handle.net/10230/52772
https://doi.org/10.1093/hmg/ddab131

المؤلفون: Juan E. Gallo, Juan E. Ochoa, Helen R. Warren, Elizabeth Misas, Monica M. Correa, Jaime A. Gallo-Villegas, Gabriel Bedoya, Dagnóvar Aristizábal, Juan G. McEwen, Mark J. Caulfield, Gianfranco Parati, Oliver K. Clay

المصدر: International Journal of Cardiology. Hypertension, Vol 7, Iss , Pp 100050- (2020)

مصطلحات موضوعية: Genotype-phenotype associations, Blood pressure levels, Haplotypes, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590086220300276; https://doaj.org/toc/2590-0862

URL الوصول: https://doaj.org/article/d9a4aa8c1829439e9debc375e4b4bd72

المؤلفون: Marsha R. Mailick, Jinkuk Hong, Leann Smith DaWalt, Jan S. Greenberg, Arezoo Movaghar, Mei Wang Baker, Paul J. Rathouz, Murray H. Brilliant

المصدر: Frontiers in Pediatrics, Vol 8 (2020)

مصطلحات موضوعية: FMR1 CGG repeats, gene x environment interactions, stressful parenting, trinucleotide repeat disorders, low zone genotype-phenotype associations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00223/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/94e54bc9129e4949a87b4b2c7a65bc38

المؤلفون: Chao Xu, Wenyu Jia, Xiangdeng Cheng, Hui Ying, Jing Chen, Jin Xu, Qingbo Guan, Xinli Zhou, Dongmei Zheng, Guimei Li, Jiajun Zhao

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)

مصطلحات موضوعية: congenital adrenal hyperplasia (CAH), CYP21A2, genotype–phenotype associations, mutation, steroid 21‐hydroxylase deficiency (21OHD), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/54d1736e336a4672bb600dc5b9936ab9

المؤلفون: Riachi, M, Yilmaz, S, Kurnaz, E, Aycan, Z, Çetinkaya, S, Tranebjærg, L, Rendtorff, ND, Bitner-Glindzicz, M, Bockenhauer, D, Hussain, K

المصدر: Human Molecular Genetics , 28 (22) pp. 3815-3824. (2019)

مصطلحات موضوعية: phenotype, diabetes mellitus, genetics, molecular, mutation, diabetes insipidus, heterogeneity, genetic databases, frameshift mutation function, genes, genotype, neurodegenerative disorders, optic atrophy, wolfram syndrome, autosomal recessive inheritance, hearing impairment, pathogenicity, neurologic complications, genotype-phenotype associations

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10084040/1/Bockenhauer_Functional%20Assessment%20of%20Variants%20Associated%20with%20Wolfram%20Syndrome_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10084040/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10084040/1/Bockenhauer_Functional%20Assessment%20of%20Variants%20Associated%20with%20Wolfram%20Syndrome_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10084040/

المؤلفون: Zigarelli, Angela M., Venera, Hanna M., Receveur, Brody A., Wolf, Jack M., Westra, Jason, Tintle, Nathan L.

مصطلحات موضوعية: statistical, genetic data banks, genetic markers, genetic privacy, genotype–phenotype associations, Genetics, Health Sciences

وصف الملف: application/pdf

Relation: Zigarelli, Angela M.; Venera, Hanna M.; Receveur, Brody A.; Wolf, Jack M.; Westra, Jason; Tintle, Nathan L. (2023). "Multimarker omnibus tests by leveraging individual marker summary statistics from large biobanks." Annals of Human Genetics 87(3): 125-136.; https://hdl.handle.net/2027.42/176253; Annals of Human Genetics; Tintle, N. L., Pottala, J. V., Lacey, S., Ramachandrane, V., Westra, J., Rogers, A., Clark, J., Olthoff, B., Larson, M., Harris, W., & Sheareri, G. C. ( 2015 ). A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the framingham heart offspring study. Prostaglandins, Leukotrienes and Essential Fatty Acids, 94, 65 – 72.; Cichonska, A., Rousu, J., Marttinen, P., Kangas, A., Soininen, P., Lehtimäki, T., Raitakari, O. T., Järvelin, M. R., Salomaa, V., Ala-Korpela, M., Ripatti, S., & Pirinen, M. 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Jurisica (Eds.), Interactive knowledge discovery and data mining in biomedical informatics. Springer.; Kalsbeek, A., Veenstra, J., Westra, J., Disselkoen, C., Koch, K., McKenzie, K. A., O’Bott, J., Vander Woude, J., Fischer, K., Shearer, G. C., Harris, W. S., & Tintle, N. L. ( 2018 ). A genome-wide asso- ciation study of red-blood cell fatty acids and ratios incorporating dietary covariates: Framingham heart study offspring cohort. PLoS ONE, 13 ( 4 ), e0194882.; Kim, J., Bai, Y., & Pan, W. ( 2015 ). An adaptive association test for multiple phenotypes with gwas summary statistics. Genetic Epidemiology, 39 ( 8 ), 651 – 663.; Lee, S., Emond, M., Bamshad, M., Barnes, K., Rieder, M., & Nickerson, D. ( 2012 ). Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. American Journal of Human Genetics, 91 ( 2 ), 224 – 237.; Lee, S., Teslovich, T. M., Boehnke, M., & Lin, X. ( 2013 ). 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PLoS ONE, 14 ( 3 ), e0213951.; Sudlow, C., Gallacher, J., Allen, N., Beral, V., Burton, P., Danesh, J., Downey, P., Elliott, P., Green, J., Landray, M., Liu, B., Matthews, P., Ong, G., Pell, J., Silman, A., Young, A., Sprosen, T., Peakman, T., & Collins, R. ( 2015 ). Uk biobank: An open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLOS Medicine, 12 ( 3 ), e1001779.; Svishcheva, G. R., Belonogova, N. M., Zorkoltseva, I. V., Kirichenko, A. V., & Axenovich, T. I ( 2019 ). Gene-based association tests using gwas summary statistics. Bioinformatics, 35 ( 19 ), 3701 – 3708.; van der Sluis, S., Posthuma, D., & Dolan, C. ( 2013 ). Tates: Efficient multivariate genotype-phenotype analysis for genome-wide association studies. PLOS Genetics, 9, e1003235.; Veenstra, J., Kalsbeek, A., Westra, J., Disselkoen, C., Smith, C. E., & Tintle, N. ( 2017 ). 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الاتاحة: https://hdl.handle.net/2027.42/176253
https://doi.org/10.1111/ahg.12495

المؤلفون: Machado, Maria Beatriz de Brito

المساهمون: Farinha, Cláudia, Coimbra, Rita Alexandra Lopes Martins

مصطلحات موضوعية: Drusen extramaculares, Scores de risco genético, Degenerescência Macular da Idade, Coimbra eye study, Associações genótipo-fenótipo, Extramacular drusen, Genetic risk score, Age-related macular degeneration, Genotype-phenotype associations

Relation: https://hdl.handle.net/10316/111267; 203450043

الاتاحة: https://hdl.handle.net/10316/111267

المؤلفون: Carvalho, Ana Teresa P., Fróes, Renata S.B., Esberard, Barbara C., Santos, Juliana C.V.C., Rapozo, Davy C. M., Grinman, Ana B., Simão, Tatiana A., Nicolau Neto, Pedro, Luiz, Ronir R., Carneiro, Antonio José V., Souza, Heitor S.P. de, Ribeiro-Pinto, Luis Felipe

المصدر: Clinics. January 2014 69(5)

مصطلحات موضوعية: Multidrug Resistance 1 Gene, Inflammatory Bowel Disease, Crohn's Disease, Brazilian Population, Genotype-Phenotype Associations

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322014000500327

المؤلفون: Ana Teresa P. Carvalho, Renata S.B. Fróes, Barbara C. Esberard, Juliana C.V.C. Santos, Davy C. M. Rapozo, Ana B. Grinman, Tatiana A. Simão, Pedro Nicolau Neto, Ronir R. Luiz, Antonio José V. Carneiro, Heitor S.P. de Souza, Luis Felipe Ribeiro-Pinto

المصدر: Clinics, Vol 69, Iss 5, Pp 327-334 (2014)

مصطلحات موضوعية: Multidrug Resistance 1 Gene, Inflammatory Bowel Disease, Crohn's Disease, Brazilian Population, Genotype-Phenotype Associations, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322014000500327&lng=en&tlng=en; https://doaj.org/toc/1980-5322

URL الوصول: https://doaj.org/article/0b6badcd798c44eba40c38ed3fe33036

المؤلفون: Papa, Riccardo, Doglio, Matteo, Lachmann, Helen J., Ozen, Seza, Frenkel, Joost, Simon, Anna, Neven, Bénédicte, Kuemmerle-Deschner, Jasmin B., Ozgodan, Huri, Caorsi, Roberta, Federici, Silvia, Finetti, Martina, Trachana, Maria, Brunner, Jurgen, Bezrodnik, Liliana, Pinedo Gago, Mari Carmen, Maggio, Maria Cristina, Tsitsami, Elena, Al Suwairi, Wafaa, Espada, Graciela, Shcherbina, Anna, Aksu, Guzide, Ruperto, Nicolino, Martini, Alberto, Ceccherini, Isabella, Gattorno, Marco, Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project

المساهمون: Arts-assistenten Kinderen, Child Health

مصطلحات موضوعية: Caps, Eurofever, FMF, Genotype-phenotype associations, Hereditary recurrent fevers, Infevers, MKD, Traps, Journal Article

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/357150

الاتاحة: https://dspace.library.uu.nl/handle/1874/357150