-
1
المؤلفون: Brittany Grommisch, Michele Spencer-Manzon, Qinghua Zhou, Peining Li, James L. McGrath, Allen E. Bale, Hongyan Chai, Maurice J. Mahoney, Jiadi Wen, Fang Xu, Hui Zhang, Autumn DiAdamo
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 10 (2019)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Down syndrome, pathogenic copy number variants, lcsh:QH426-470, Population, 03 medical and health sciences, 0302 clinical medicine, microdeletions and microduplications, DiGeorge syndrome, Turner syndrome, Genetics, medicine, diagnostic accuracy and efficacy, Copy-number variation, prenatal and pediatric diagnosis, education, Genetics (clinical), Original Research, Fetus, education.field_of_study, medicine.diagnostic_test, business.industry, recurrent genomic disorders, medicine.disease, relative frequency, lcsh:Genetics, chromosomal abnormalities, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine, abnormality detection rate, business, Fluorescence in situ hybridization, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a0e89ec6d6e5493ca4359bb6826d1eTest
https://doi.org/10.3389/fgene.2019.01162Test -
2
المؤلفون: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes
المساهمون: Immunology, Ophthalmology
المصدر: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705مصطلحات موضوعية: Adult, Male, Proband, Oncology, medicine.medical_specialty, Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Visual Acuity, Mevalonic Acid, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Fluorescein Angiography, Exome sequencing, Mevalonate kinase deficiency, biology, business.industry, Genetic heterogeneity, Mevalonate kinase, Middle Aged, medicine.disease, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, Mutation, biology.protein, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Retinitis Pigmentosa, Tomography, Optical Coherence
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17Test
https://doi.org/10.1016/j.ophtha.2013.07.052Test -
3
المؤلفون: Carlo Marcelis, Rolph Pfundt, Bart C.W. Kuipers, Bert B.A. de Vries, Nicole de Leeuw, Anneke T. Vulto-van Silfhout
المصدر: Clinical Dysmorphology, 22, 1, pp. 18-21
Clinical Dysmorphology, 22, 18-21مصطلحات موضوعية: Male, Candidate gene, Prominent forehead, Haploinsufficiency, GPI-Linked Proteins, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Intellectual Disability, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Short philtrum, Dysmorphic facial features, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Genetics, business.industry, Neuropeptides, Infant, General Medicine, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], DNA-Binding Proteins, Feeding problems, Facial Asymmetry, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomes, Human, Pair 6, Female, Syndactyly, Anatomy, Chromosome Deletion, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8c255dfe5b4731ba8b6b01e58a866eTest
https://doi.org/10.1097/mcd.0b013e32835b6e39Test -
4
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 -
5
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 -
6
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 -
7
المؤلفون: Willem M.A. Verhoeven, Nicole de Leeuw, Ilse Feenstra, Jos I. M. Egger
المساهمون: Psychiatry
المصدر: European Journal of Medical Genetics, 55, 5, pp. 258-361
European Journal of Medical Genetics, 55, 5, pp. 358-61
European Journal of Medical Genetics, 55(5), 358-361. Elsevier Masson
European Journal of Medical Genetics, 55, 258-361
European Journal of Medical Genetics, 55, 358-61مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Status epilepticus, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Experimental Psychopathology and Treatment, Epilepsy, Pectus excavatum, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Psychomotor learning, Comparative Genomic Hybridization, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, Neuropsychology, General Medicine, Plasticity and Memory [DI-BCB_DCC_Theme 3], Microdeletion syndrome, medicine.disease, Female, Chromosome Deletion, medicine.symptom, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 8, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e79202f45d5fb0b0375e8cbf04edd30Test
https://hdl.handle.net/2066/110541Test -
8
المؤلفون: Wout Feitz, Nel Roeleveld, Nine V A M Knoers, I.A.L.M. van Rooij, Barbara Franke, L.F.M. Van Der Zanden
المصدر: Human Reproduction Update, 18, 260-83
Human Reproduction Update, 18, 3, pp. 260-83مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Mutation/genetics, Placental insufficiency, Bioinformatics, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genetic, Pre-Eclampsia, Polymorphism (computer science), Pregnancy, medicine, Homeobox, Humans, Prenatal Exposure Delayed Effects/etiology, Tissue engineering and pathology Renal disorder [NCMLS 3], Polymorphism, Gynecology, Hypospadias/etiology, Hypospadias, Polymorphism, Genetic, business.industry, Genes, Homeobox, Obstetrics and Gynecology, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Human Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12], medicine.disease, Reproductive Medicine, Human Reproduction Renal disorder [NCEBP 12], Genes, SRD5A2, Prenatal Exposure Delayed Effects, Mutation, HSD3B2, Etiology, Female, Gene-Environment Interaction, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf2ae3e0e7d63ea0247c2ac50a513e90Test
https://doi.org/10.1093/humupd/dms002Test -
9
المؤلفون: Martin Lammens, Robert W. Taylor, H. Barth, Ron A. Wevers, Saskia B. Wortmann, B. Trutnau, Richard J. Rodenburg, Kate Craig, Michael Champion, Eva Morava, Lambert P. van den Heuvel, Jan A.M. Smeitink, Michiel F. Schreuder
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Wortmann, S B, Champion, M P, van den Heuvel, L, Barth, H, Trutnau, B, Craig, K, Lammens, M, Schreuder, M F, Taylor, R W, Smeitink, J A M, Wevers, R A, Rodenburg, R J & Morava, E 2012, ' Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? ', European Journal of Medical Genetics, vol. 55, no. 10, pp. 552-556 . https://doi.org/10.1016/j.ejmg.2012.06.002Test
European Journal of Medical Genetics, 55, 10, pp. 552-6
European Journal of Medical Genetics, 55, 552-6
European Journal of Medical Genetics, 55(10), 552-556. Elsevier Masson SASمصطلحات موضوعية: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, RNA, Transfer, Leu, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Encephalopathy, MELAS syndrome, Renal disorder Energy and redox metabolism [IGMD 9], Gastroenterology, DNA, Mitochondrial, Genomic disorders and inherited multi-system disorders [IGMD 3], Kearns–Sayre syndrome, Renal tubular acidosis, Mitochondrial myopathy, Renal tubular dysfunction, Internal medicine, Genetics, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Creatine Kinase, Genetics (clinical), Renal disorder [IGMD 9], business.industry, Hypertrophic cardiomyopathy, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Infant, General Medicine, Acidosis, Renal Tubular, Syndrome, Glycostation disorders [IGMD 4], Cardiomyopathy, Hypertrophic, medicine.disease, Pedigree, Renal disorder Membrane transport and intracellular motility [IGMD 9], Mitochondrial medicine [IGMD 8], Endocrinology, Genes, Mitochondrial, Lactic acidosis, Mutation, Muscle Hypotonia, Acidosis, Lactic, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc9f553e87ca4aa8cbe20ede63dc2774Test
https://hdl.handle.net/1871/42986Test -
10
المؤلفون: Bernd Kirchhof, Johannes P. H. van de Ven, Carel B. Hoyng, Robert K. Koenekoop, Amer Omar, Dzenita Smailhodzic, Alice Yang Zhang, Sascha Fauser, Anneke I. den Hollander, Angela Kwestro, Philipp S. Muether, John C. Chen, Jan E.E. Keunen, B. Jeroen Klevering
المصدر: Ophthalmology, 119, 2304-11
Ophthalmology, 119, 11, pp. 2304-11مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, medicine.medical_specialty, Genotype, genetic structures, Visual Acuity, Angiogenesis Inhibitors, Single-nucleotide polymorphism, Antibodies, Monoclonal, Humanized, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Cohort Studies, Risk Factors, Ranibizumab, Ophthalmology, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], medicine, Humans, Age of Onset, Fluorescein Angiography, Alleles, Aged, Aged, 80 and over, business.industry, Standard treatment, Proteins, Diabetic retinopathy, Middle Aged, Macular degeneration, medicine.disease, Vascular Endothelial Growth Factor Receptor-2, Frizzled Receptors, eye diseases, Low Density Lipoprotein Receptor-Related Protein-5, Pharmacogenetics, Complement Factor H, Intravitreal Injections, Wet Macular Degeneration, Female, sense organs, Age of onset, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Tomography, Optical Coherence, Cohort study, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3af55bef306a2d2f3ffcf78d698eafbTest
https://hdl.handle.net/2066/110749Test