المؤلفون: Day, Felix R, Thompson, Deborah J, Helgason, Hannes, Chasman, Daniel I, Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S, Whalen, Sean, Sarkar, Abhishek K, Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M, Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J, Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L, Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E, Nolte, Ilja M, Noordam, Raymond, Nutile, Teresa, Paternoster, Lavinia, Perjakova, Natalia, Porcu, Eleonora, Rose, Lynda M, Schraut, Katharina E, Segrè, Ayellet V, Smith, Albert V, Stolk, Lisette, Teumer, Alexander, Andrulis, Irene L., Bandinelli, Stefania, Beckmann, Matthias W, Benitez, Javier, Bergmann, Sven, Bochud, Murielle, Boerwinkle, Eric, Bojesen, Stig E, Bolla, Manjeet K, Brand, Judith S, Nohr, Ellen A

المصدر: Day , F R , Thompson , D J , Helgason , H , Chasman , D I , Finucane , H , Sulem , P , Ruth , K S , Whalen , S , Sarkar , A K , Albrecht , E , Altmaier , E , Amini , M , Barbieri , C M , Boutin , T , Campbell , A , Demerath , E , Giri , A , He , C , Hottenga , J J , Karlsson , R , Kolcic , I , Loh , P-R , Lunetta , K L ....

مصطلحات موضوعية: Adolescent, Age Factors, Body Mass Index, Calcium-Binding Proteins, Databases, Genetic, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomic Imprinting, Humans, Intercellular Signaling Peptides and Proteins/genetics, Male, Membrane Proteins/genetics, Menarche/genetics, Neoplasms/genetics, Polymorphism, Single Nucleotide, Puberty/genetics, Quantitative Trait Loci, Ribonucleoproteins/genetics, Risk Factors

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/0a8e80f1-8036-48c3-8c05-fa760df3ef4bTest

الإتاحة: https://doi.org/10.1038/ng.3841Test
https://portal.findresearcher.sdu.dk/da/publications/0a8e80f1-8036-48c3-8c05-fa760df3ef4bTest

المؤلفون: Andersen, Malene Rask, Farooq, Muhammad, Koefoed, Karen, Kjaer, Klaus W, Simony, Ane, Christensen, Søren Tvorup, Larsen, Lars Allan

المصدر: Andersen , M R , Farooq , M , Koefoed , K , Kjaer , K W , Simony , A , Christensen , S T & Larsen , L A 2017 , ' Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis ' , Spine , vol. 42 , no. 12 , pp. E702-E707 . https://doi.org/10.1097/BRS.0000000000001927Test

مصطلحات موضوعية: VANGL1, adolescent idiopathic scoliosis, adolescent ididopatic scoliosis, disease gene, genetics, mutation detection, functional analysis, planar cell polarity signaling, WNT signaling, missense mutation, Humans, Cells, Cultured, Membrane Proteins/genetics, Cell Polarity/genetics, Mutation, Missense, Wnt Signaling Pathway/genetics, Carrier Proteins/genetics, Adolescent, Adult, Heterozygote, Scoliosis/genetics, Aged

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/e80a9252-81eb-4b0d-91b6-c592ac8ad692Test

الإتاحة: https://doi.org/10.1097/BRS.0000000000001927Test
https://portal.findresearcher.sdu.dk/da/publications/e80a9252-81eb-4b0d-91b6-c592ac8ad692Test

المؤلفون: Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine V A M, van Haaften, Gijs

المصدر: Kroes , H Y , Monroe , G R , van der Zwaag , B , Duran , K J , de Kovel , C G , van Roosmalen , M J , Harakalova , M , Nijman , I J , Kloosterman , W P , Giles , R H , Knoers , N V A M & van Haaften , G 2016 , ' Joubert syndrome : genotyping a Northern European patient cohort ' , EJHG , vol. 24 , no. 2 , pp. 214-220 . https://doi.org/10.1038/ejhg.2015.84Test ; ISSN:1018-4813

مصطلحات موضوعية: Abnormalities, Multiple/diagnosis, Adaptor Proteins, Signal Transducing/genetics, Adolescent, Cerebellum/abnormalities, Child, Preschool, Eye Abnormalities/diagnosis, Female, Genetic Counseling, Genotype, High-Throughput Nucleotide Sequencing, Humans, Infant, Kidney Diseases, Cystic/diagnosis, Male, Membrane Proteins/genetics, Pathology, Molecular, Proteins/genetics, Retina/abnormalities, Young Adult

الإتاحة: https://doi.org/10.1038/ejhg.2015.84Test
http://hdl.handle.net/11370/01daa816-81eb-4be5-a3b7-183021192272Test
https://research.rug.nl/en/publications/joubert-syndromeTest(01daa816-81eb-4be5-a3b7-183021192272).html

المؤلفون: Brown, Andrew A.

المصدر: Alzheimer’s Disease Neuroimaging Initiative , The CHARGE Consortium , EPIGEN , IMAGEN , SYS & Brown , A A 2015 , ' Common genetic variants influence human subcortical brain structures ' , Nature , vol. 520 , no. 7546 , pp. 224-229 . https://doi.org/10.1038/nature14101Test

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Aging/genetics, Apoptosis/genetics, Brain/anatomy & histology, Caudate Nucleus/anatomy & histology, Child, Female, Gene Expression Regulation, Developmental/genetics, Genetic Loci/genetics, Genetic Variation/genetics, Genome-Wide Association Study, Hippocampus/anatomy & histology, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins/genetics, Middle Aged, Organ Size/genetics, Putamen/anatomy & histology, Sex Characteristics, Skull/anatomy & histology, Young Adult

العلاقة: https://discovery.dundee.ac.uk/en/publications/2552e335-835b-4617-848c-79e8acb47c1dTest

الإتاحة: https://doi.org/10.1038/nature14101Test
https://discovery.dundee.ac.uk/en/publications/2552e335-835b-4617-848c-79e8acb47c1dTest

المؤلفون: Oteo, Jesús, Navarro, Carmen, Cercenado, Emilia, Delgado-Iribarren, Alberto, Wilhelmi, Isabel, Orden, Beatriz, García, Carmen, Miguelañez, Silvia, Pérez-Vázquez, María, García-Cobos, Silvia, Aracil, Belén, Bautista, Verónica, Campos, José

المصدر: Oteo , J , Navarro , C , Cercenado , E , Delgado-Iribarren , A , Wilhelmi , I , Orden , B , García , C , Miguelañez , S , Pérez-Vázquez , M , García-Cobos , S , Aracil , B , Bautista , V & Campos , J 2006 , ' Spread of Escherichia coli strains with high-level cefotaxime and ceftazidime resistance between the community, long-term care facilities, and hospital institutions ' , Journal of Clinical Microbiology , vol. 44 , no. 7 , pp. 2359-2366 . https://doi.org/10.1128/JCM.00447-06Test

مصطلحات موضوعية: Adolescent, Adult, Anti-Bacterial Agents/pharmacology, Bacterial Outer Membrane Proteins/genetics, Blood/microbiology, Cefotaxime/pharmacology, Ceftazidime/pharmacology, Cluster Analysis, Community-Acquired Infections/epidemiology, Cross Infection/epidemiology, DNA Transposable Elements/genetics, Escherichia coli/classification, Escherichia coli Infections/epidemiology, Escherichia coli Proteins/analysis, Female, Humans, Male, Microbial Sensitivity Tests, Middle Aged, Molecular Epidemiology, Receptors, Cell Surface/genetics, Spain, Urine/microbiology, Virulence/genetics, Wounds and Injuries/microbiology, beta-Lactam Resistance, beta-Lactamases/analysis

العلاقة: https://research.rug.nl/en/publications/a84aff44-8b96-4b65-a75b-78f0e2aafd35Test

الإتاحة: https://doi.org/10.1128/JCM.00447-06Test
https://hdl.handle.net/11370/a84aff44-8b96-4b65-a75b-78f0e2aafd35Test
https://research.rug.nl/en/publications/a84aff44-8b96-4b65-a75b-78f0e2aafd35Test