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المؤلفون: Stefanie Märzheuser, Heiko Reutter, Franziska Degenhardt, Markus M. Nöthen, Tracie Pennimpede, Hartmut Engels, Lars Wittler, Michael Ludwig, Gabriel C. Dworschak, Markus Draaken, Friedhelm Hildebrandt, Sabine Grasshoff-Derr, Iris A.L.M. van Rooij, Enrika Bartels, Carlo Marcelis, Charlotte Schramm, Eberhard Schmiedeke, Charlotte H. W. Wijers, Alina C. Hilger, Alexander M. Zink, Stuart Hosie, Bernhard G. Herrmann, Stefan Holland-Cunz, Annette M. Müller
المصدر: European journal of human genetics : EJHG ; the official journal of the European Society of Human Genetics
European Journal of Human Genetics, 21, 12, pp. 1377-82
European Journal of Human Genetics, 21, 1377-82مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Candidate gene, DNA Copy Number Variations, Limb Deformities, Congenital, Anal Canal, Tracheoesophageal fistula, Biology, Kidney, Gastroenterology, digestive system, Article, Receptors, G-Protein-Coupled, Anus, Imperforate, Genomic disorders and inherited multi-system disorders [IGMD 3], Mice, Esophagus, Internal medicine, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Copy-number variation, Genetics (clinical), Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, VACTERL association, Phenotype, Spine, digestive system diseases, Trachea, Radius, medicine.anatomical_structure, Human Reproduction Renal disorder [NCEBP 12], Atresia, Karyotyping, Female, SNP array
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3804f14a988999d6146fe14e3be0efTest
https://hdl.handle.net/2066/125305Test -
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المؤلفون: Anneke I. den Hollander, Carel B. Hoyng, B. Jeroen Klevering, Johannes P. H. van de Ven, Camiel J. F. Boon
المصدر: Progress in Retinal and Eye Research, 37, 90-113
Progress in Retinal and Eye Research, 37, pp. 90-113مصطلحات موضوعية: Pathology, medicine.medical_specialty, Complement system, genetic structures, Population, Retinal Drusen, Drusen, Biology, Cuticular drusen, Diagnosis, Differential, Macular Degeneration, Risk Factors, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], medicine, Genetics, Humans, Genetic Predisposition to Disease, Membranoproliferative glomerulonephritis type II, Pigment Epithelium of Eye, education, education.field_of_study, Age-related macular degeneration, Complement System Proteins, Macular degeneration, medicine.disease, Sensory Systems, eye diseases, Ophthalmology, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cceb650d5163b2f8c550650b075c3d39Test
https://hdl.handle.net/2066/125300Test -
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المؤلفون: Sandy Popp, Angelika Schmitt, Olga Rivero, Klaus-Peter Lesch, Sarah Sich, Barbara Franke
المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience
المصدر: European Neuropsychopharmacology, 23(6), 492-507. Elsevier
European Neuropsychopharmacology, 23, 6, pp. 492-507
European Neuropsychopharmacology, 23, 492-507مصطلحات موضوعية: Serotonin, Cadherin-13 (CDH13), Neurite, Neurogenesis, Dopamine, Attention-deficit/hyperactivity disorder (ADHD), Nerve Tissue Proteins, Single-nucleotide polymorphism, Impulsivity, Models, Biological, Synaptic Transmission, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Cellular signaling, Neurites, medicine, Animals, Humans, SNP, Genetic Predisposition to Disease, Pharmacology (medical), Biological Psychiatry, Neurons, Pharmacology, Connectivity, Axon guidance, Neurite outgrowth, Neurodevelopmental disorders, Brain, Genetic Variation, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Cadherins, T-cadherin, Emotional dysregulation, medicine.disease, Substance abuse, Psychiatry and Mental health, Neurology, Attention Deficit Disorder with Hyperactivity, Endothelium, Vascular, Neurology (clinical), Nerve Net, medicine.symptom, Psychology, Neuroscience, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fefe0d267163ba0a94515fe5788567cTest
https://doi.org/10.1016/j.euroneuro.2012.06.009Test -
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المؤلفون: R. Pfundt, Caleb Webber, A.P.M. de Brouwer, Han G. Brunner, Janneke H M Schuurs-Hoeijmakers, A.T. van Silfhout, L.B.A. de Vries, B W M van Bon, Jayne Y. Hehir-Kwa, I.J. Thoonen, Stephen Meader, N. de Leeuw, C.J. Hellebrekers
المصدر: Human Mutation; Vol 34
Human Mutation, 34, 12, pp. 1679-87
Human Mutation, 34, 1679-87مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, DNA Copy Number Variations, endocrine system diseases, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Intellectual Disability, Human Phenotype Ontology, mental disorders, Genetics, SNP, Humans, Clinical significance, Abnormalities, Multiple, Copy-number variation, Child, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Chromosome Mapping, Computational Biology, Phenotype, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Severe phenotype, Child, Preschool, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33e1b54fd2736dd380f97bd6789f1a3Test
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المؤلفون: Tom W J Huizinga, Hans Scheffer, Piet L. C. M. van Riel, T.L.Th.A. Jansen, Anne Barton, Henk-Jan Guchelaar, Paul P. Tak, Ellen A J Dutmer, Leonid Padyukov, Remco R. R. Makkinje, Han G. Brunner, Sita H. Vermeulen, Peter K. Gregersen, Robert M. Plenge, Xavier Mariette, Timothy R D J Radstake, Renee Allaart, Corinne Miceli, Dirk Jan Van Schaardenburg, Pilar Barrera, Maša Umićević Mirkov, S. Louis Bridges, Marieke J H Coenen, Niek de Vries, Annette Lee, Jing Cui, Barbara Franke, Mart A F J van de Laar, Eli A. Stahl, Saedis Saevarsdottir, Erik J M Toonen, Lindsey A. Criswell
المساهمون: Faculty of Behavioural, Management and Social Sciences, Psychology, Health & Technology, Clinical Immunology and Rheumatology, AII - Amsterdam institute for Infection and Immunity, Rheumatology, CCA - Disease profiling
المصدر: Annals of the Rheumatic Diseases, 72, 8, pp. 1375-81
Annals of the Rheumatic Diseases, 72, 1375-81
Annals of the rheumatic diseases, vol 72, iss 8
Annals of the rheumatic diseases, 72, 1375-1381. BMJ
Annals of the rheumatic diseases, 72(8), 1375-1381. BMJ Publishing Group
Annals of the Rheumatic Diseases, 72(8), 1375-1381. BMJ Publishing Group
Mirkov, M U, Cui, J, Vermeulen, S H, Stahl, E A, Toonen, E J M, Makkinje, R R, Lee, A T, Huizinga, T W J, Allaart, R, Barton, A, Mariette, X, Miceli, C R, Criswell, L A, Tak, P P, de Vries, N, Saevarsdottir, S, Padyukov, L, Bridges, S L, van Schaardenburg, D, Jansen, T L, Dutmer, E A J, van de Laar, M A F J, Barrera, P, Radstake, T R D J, van Riel, P L C M, Scheffer, H, Franke, B, Brunner, H G, Plenge, R M, Gregersen, P K, Guchelaar, H J & Coenen, M J H 2013, ' Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis ', Annals of the Rheumatic Diseases, vol. 72, no. 8, pp. 1375-1381 . https://doi.org/10.1136/annrheumdis-2012-202405Test
Annals of the Rheumatic Diseases, 72(8), 1375-1381مصطلحات موضوعية: Male, Oncology, DNA Mutational Analysis, Drug Resistance, IR-86362, Genome-wide association study, DCN PAC - Perception action and control, Cell morphology, Receptors, Tumor Necrosis Factor, Etanercept, Arthritis, Rheumatoid, Anti-TNF, Rheumatoid, Receptors, Monoclonal, 2.1 Biological and endogenous factors, Immunology and Allergy, Registries, Aetiology, Humanized, Health aging / healthy living Pathogenesis and modulation of inflammation [IGMD 5], Antibodies, Monoclonal, Single Nucleotide, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Connective tissue disease, Antirheumatic Agents, Rheumatoid arthritis, Public Health and Health Services, Evaluation of complex medical interventions Auto-immunity, transplantation and immunotherapy [NCEBP 2], Female, Genetic Markers, medicine.medical_specialty, Clinical Sciences, Immunology, METIS-291290, Rheumatoid Arthritis, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymorphism, Single Nucleotide, Autoimmune Disease, Article, Antibodies, General Biochemistry, Genetics and Molecular Biology, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Molecular epidemiology [NCEBP 1], Gene Polymorphism, Rheumatology, Internal medicine, Genetics, medicine, Humans, Polymorphism, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Tumor Necrosis Factor-alpha, business.industry, Arthritis, Inflammatory and immune system, Human Genome, Adalimumab, medicine.disease, Infliximab, Arthritis & Rheumatology, Gene Expression Regulation, Pharmacogenetics, Genetic marker, Immunoglobulin G, Gene polymorphism, Tumor Necrosis Factor, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1200625a9d12ca0938a6cd05b0c87504Test
https://doi.org/10.1136/annrheumdis-2012-202405Test -
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المؤلفون: Erik-Jan Kamsteeg, Saskia D. van der Velde-Visser, Michael T. Geraghty, Christian Gilissen, Dirk J. Lefeber, Lihadh Al-Gazali, Joris A. Veltman, Han G. Brunner, Bart P.C. van de Warrenburg, Marinette van der Graaf, Amanda C. Smith, Martin Lammens, Willem M.R. van den Akker, Riad Bayoumi, Salma Ben-Salem, Arjan P.M. de Brouwer, Jeremy Schwartzentruber, Lisenka E.L.M. Vissers, Hans van Bokhoven, Bonnie Nijhof, Michèl A.A.P. Willemsen, Annette Schenck, Anna Castells Nobau, Corrie E. Erasmus, Adinda Diekstra, Bassam R. Ali, Anneke T. Vulto-van Silfhout, Sascha Vermeer, Ron A. Wevers, Irene M. Janssen, Susanne T. de Bot, Saeed Al-Yahyaee, Said Tariq, Peter Humphreys, Thachillath Pramathan, Bert B.A. de Vries, Irene Otte-Höller, Hubertus P. H. Kremer, Ilse I.G.M. van de Vondervoort, Janneke H M Schuurs-Hoeijmakers
المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)
المصدر: American Journal of Human Genetics, 91, 6, pp. 1073-81
American Journal of Human Genetics, 91(6), 1073-1081. CELL PRESS
American Journal of Human Genetics, 91, 1073-81مصطلحات موضوعية: Central Nervous System, Male, THIN CORPUS-CALLOSUM, INTELLECTUAL DISABILITY, Phospholipase, medicine.disease_cause, PATHWAY, Genotype, Gene Order, Genetics(clinical), PLASTICITY, Child, Genetics (clinical), Genetics, Mutation, Functional imaging [IGMD 1], Phenotype, Magnetic Resonance Imaging, Pedigree, DROSOPHILA, Phospholipases, Child, Preschool, Female, Intracellular, Adult, Adolescent, SEQUENCING DATA, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Genes, Recessive, Neuroimaging, Biology, KIAA0725P, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Translational research [ONCOL 3], Report, medicine, Humans, TRAFFICKING, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], NEUROMUSCULAR-JUNCTION, Phospholipase A, Base Sequence, Spastic Paraplegia, Hereditary, Facies, Lipid metabolism, Glycostation disorders [IGMD 4], medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], nervous system diseases, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], MAMMALIAN SEC23P-INTERACTING PROTEIN
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e6f6a1647a497e7f32c1894d808fadTest
https://hdl.handle.net/11370/c11479df-ed8e-482b-82c3-b39478a237f1Test -
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المؤلفون: Camiel J. F. Boon, Thomas Theelen, Yara T. E. Lechanteur, Dzenita Smailhodzic, Carel B. Hoyng, Johannes P. H. van de Ven, Anneke I. den Hollander
المصدر: American Journal of Ophthalmology, 154, 3, pp. 560-7
American Journal of Ophthalmology, 154, 560-7مصطلحات موضوعية: Male, medicine.medical_specialty, genetic structures, Visual Acuity, Retinal Drusen, Spectral domain, Retinal Pigment Epithelium, Drusen, Evaluation of complex medical interventions Functional imaging [NCEBP 2], Basement Membrane, Optics, Optical coherence tomography, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Ophthalmology, Odds Ratio, Humans, Medicine, Prospective Studies, Prospective cohort study, Aged, Aged, 80 and over, Retinal pigment epithelium, medicine.diagnostic_test, business.industry, Odds ratio, Middle Aged, medicine.disease, eye diseases, Confidence interval, Extracellular Matrix, Phenotype, medicine.anatomical_structure, Basal Laminar Drusen, Female, Bruch Membrane, sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b699448957048b8c15d0f5c46866ce35Test
https://doi.org/10.1016/j.ajo.2012.03.012Test -
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المصدر: Ophthalmic Genetics, 33, 4, pp. 221-4
Ophthalmic Genetics, 33, 221-4مصطلحات موضوعية: Male, Intraocular pressure, medicine.medical_specialty, Triamcinolone acetonide, Genotype, genetic structures, medicine.drug_class, Ocular hypertension, Single-nucleotide polymorphism, Pharmacology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Triamcinolone Acetonide, Gastroenterology, Tacrolimus Binding Proteins, Tonometry, Ocular, Gene Frequency, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, medicine, Humans, Glucocorticoids, Intraocular Pressure, Genetics (clinical), Aged, Retrospective Studies, Serine-Arginine Splicing Factors, business.industry, RNA-Binding Proteins, Intravitreal administration, Middle Aged, medicine.disease, Acetonide, eye diseases, Ophthalmology, Case-Control Studies, Intravitreal Injections, Pediatrics, Perinatology and Child Health, Cohort, Corticosteroid, Female, Ocular Hypertension, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb00bf58897e303f91ff849b56261c05Test
https://doi.org/10.3109/13816810.2012.716488Test -
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المؤلفون: Barbara Franke, Guillén Fernández, van Oostrom I, Thomas Frodl, Lotte Gerritsen, Mark Rijpkema, Daphne Everaerd, Indira Tendolkar
المصدر: Neuropsychopharmacology, 37, 1848-55
Neuropsychopharmacology, 37, 8, pp. 1848-55مصطلحات موضوعية: Male, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, Medizin, Locus (genetics), DCN PAC - Perception action and control, Biology, Hippocampus, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Life Change Events, Atrophy, 130 000 Cognitive Neurology & Memory, Internal medicine, Image Processing, Computer-Assisted, medicine, Humans, Hippocampus (mythology), Allele, Alleles, Serotonin transporter, Serotonin Plasma Membrane Transport Proteins, Pharmacology, Genetics, Brain Mapping, Sex Characteristics, Polymorphism, Genetic, Depression, Translational research Immune Regulation [ONCOL 3], Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Magnetic Resonance Imaging, Psychiatry and Mental health, Endocrinology, biology.protein, Female, Original Article, Self Report, Gene polymorphism, Sex characteristics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a87ac53e59e7a585290b3776c20458Test
https://doi.org/10.1038/npp.2012.32Test -
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المؤلفون: Ernie M.H.F. Bongers, Rolph Pfundt, Marjolijn C.J. Jongmans, Eugène T P Verwiel, Koen L.I. van Gassen, Eveline J. Kamping, Yvonne F. Heijdra, Roland P. Kuiper, Frank N. van Leeuwen, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Tom Vulliamy, Jayne Y. Hehir-Kwa, Marjolijn J L Ligtenberg, Liesbeth van Emst, Inderjeet Dokal
المصدر: American Journal of Human Genetics, 90, 426-33
American Journal of Human Genetics, 90, 3, pp. 426-33مصطلحات موضوعية: Male, Telomerase, Germline, Cohort Studies, Genetics(clinical), Child, Genetics (clinical), Renal disorder [IGMD 9], Genetics, Recombination, Genetic, Mosaicism, Homozygote, Middle Aged, Age-related aspects of cancer Immune Regulation [ONCOL 2], Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Child, Preschool, Female, Adult, Mitotic crossover, Adolescent, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Mitosis, Biology, Polymorphism, Single Nucleotide, Dyskeratosis Congenita, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Telomerase RNA component, Young Adult, Germline mutation, Translational research [ONCOL 3], medicine, Humans, Cell Lineage, Allele, Genetics and epigenetic pathways of disease Translational research [NCMLS 6], Alleles, Germ-Line Mutation, Aged, Hereditary cancer and cancer-related syndromes [ONCOL 1], Chromosome, Sequence Analysis, DNA, medicine.disease, Molecular biology, RNA, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Dyskeratosis congenita
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f601ddb4f5674f953d3c22b0ecc29Test