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1مراجعة
المؤلفون: Shaw-Smith, Charles1 css@sanger.ac.uk
المصدر: Human Genetics. Jun2007, Vol. 121 Issue 5, p639-640. 2p.
مصطلحات موضوعية: *GENOMICS, *NONFICTION
Reviews & Products: GENOMIC Disorders: The Genomic Basis of Disease (Book)
People: LUPSKI, J. R., STANKIE, P. T.
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المؤلفون: Jasper C A Broen, Timothy R D J Radstake, Marieke J H Coenen
المصدر: Current Rheumatology Reports
Current Rheumatology Reports, 14, 11-21
Current Rheumatology Reports, 14, 1, pp. 11-21مصطلحات موضوعية: medicine.medical_specialty, Scleroderma (J Varga, Section Editor), Genome-wide association study, Genome-wide association studies, Scleroderma, Family studies, Rheumatology, Fibrosis, Internal medicine, Immune Cell Activation, Genetics, medicine, Humans, skin and connective tissue diseases, Genomic disorders and inherited multi-system disorders Molecular epidemiology [IGMD 3], Autoimmune disease, Scleroderma, Systemic, integumentary system, business.industry, medicine.disease, Infection and autoimmunity Auto-immunity, transplantation and immunotherapy [NCMLS 1], Immunology, Systemic sclerosis, Polymorphisms, business, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83ab7482360a915afa32d0e197f47405Test
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المصدر: Journal of Inherited Metabolic Disease, 35, 1, pp. 13-22
Journal of Inherited Metabolic Disease, 35, 13-22
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Biomedical Research, Magnetic Resonance Spectroscopy, Mitochondrion, Bioinformatics, Models, Biological, Gas Chromatography-Mass Spectrometry, Leucine catabolism, Glutarates, Genomic disorders and inherited multi-system disorders [IGMD 3], Urinary excretion, medicine, Genetics, Humans, Genetics(clinical), Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics (clinical), Pearson syndrome, Heterogeneous group, Chemistry, nutritional and metabolic diseases, Barth syndrome, Glycostation disorders [IGMD 4], 3-Methylglutaconic Aciduria, medicine.disease, Human genetics, Mitochondria, Mitochondrial medicine [IGMD 8], Biochemistry, Branched-chain Amino Acids, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d461dff7b71bc76ab254cff256af624Test
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المؤلفون: Hélène Ogier de Baulny, Jaak Jaeken, Frits A. Wijburg, Joanna L. Elson, Regina Ensenauer, Ron A. Wevers, Dorus Kouwenberg, Thatjana Gardeitchik, Miranda Theodore, Robert McFarland, Miski Mohamed, Maaike de Vries, Samira Achouitar, Stephanie Grunewald, Jolanta Sykut-Cegielska, Saskia B. Wortmann, Katrin Õunap, Diego Martinelli, Leo G.J. Nijtmans, Eva Morava
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases
المصدر: Journal of inherited metabolic disease, 34(4), 923-927. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7
Journal of Inherited Metabolic Disease, 34, 923-7مصطلحات موضوعية: Male, Research design, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Psychological intervention, CDG - an Update, Neurological examination, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Congenital Disorders of Glycosylation, Rating scale, Genetics, Humans, Medicine, Genetics(clinical), Child, Genetics (clinical), medicine.diagnostic_test, business.industry, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Prognosis, Clinical trial, Natural history, Research Design, Child, Preschool, Disease Progression, Female, Perception and Action Glycostation disorders [DCN 1], business, Natural history study, Cohort study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5562b8b7ba547d43e4fecc43b6771deTest
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المصدر: Familial Cancer
Familial Cancer, 10, 1, pp. 51-7
Familial Cancer, 10, 51-7مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cancer Research, Time Factors, Genetic testing, Cross-sectional study, Colorectal cancer, Genetic counseling, Hereditary cancer and cancer-related syndromes Genetics and epigenetic pathways of disease [ONCOL 1], Genetic Counseling, Psychological distress, Risk Assessment, Article, Time, Internal medicine, medicine, Genetics, Humans, Hereditary cancer and cancer-related syndromes Molecular epidemiology [ONCOL 1], Genetic Predisposition to Disease, Psychological testing, Genetics(clinical), Psychiatry, neoplasms, Genetics (clinical), Aged, MSI-analysis, Aged, 80 and over, Psychological Tests, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Cancer, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, digestive system diseases, Psychological determinants of chronic illness Quality of Care [NCEBP 8], Distress, Cross-Sectional Studies, Oncology, Female, Microsatellite Instability, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Psychopathology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3527f282e0f8a1426a907dd46fb83f15Test
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المؤلفون: Ben C.J. Hamel, C.E. van Die, Elisabeth A.M. Cornelissen, I.J.M. de Vries, J.L. Yntema, N. Crama
المصدر: European Journal of Pediatrics
European Journal of Pediatrics, 169, 77-88
European Journal of Pediatrics, 169, 1, pp. 77-88مصطلحات موضوعية: Thorax, medicine.medical_specialty, Pediatrics, Survival, Asphyxiating thoracic dystrophy, Jeune syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Asphyxiating thoracic dysplasia, medicine, Pediatrics, Perinatology, and Child Health, Respiratory system, Renal disorder [IGMD 9], Original Paper, Respiratory distress, business.industry, Follow-up protocol, Dystrophy, medicine.disease, Osteochondrodysplasia, Surgery, Evaluation of complex medical interventions [NCEBP 2], Dysplasia, Pediatrics, Perinatology and Child Health, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8948fc1150a20308a1d5f7d81c686975Test
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المؤلفون: An I. Jonckheere, Richard J. Rodenburg, Jan A.M. Smeitink
المصدر: Journal of Inherited Metabolic Disease, 35, 211-25
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 35, 2, pp. 211-25مصطلحات موضوعية: Pathology, medicine.medical_specialty, Review, Biology, Mitochondrion, Mitochondrial Proton-Translocating ATPases, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Adenosine Triphosphate, medicine, Genetics, Animals, Humans, Genetics(clinical), Inner mitochondrial membrane, Genetics (clinical), ATP synthase, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Mitochondria, Adenosine Diphosphate, Mitochondrial medicine [IGMD 8], chemistry, Mitochondrial matrix, biology.protein, ATP–ADP translocase, Adenosine triphosphate, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::010439afacf829d3196308fe4dd7e62fTest
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المؤلفون: Richard J. Rodenburg
المصدر: Journal of Inherited Metabolic Disease, 34, 2, pp. 283-92
Journal of Inherited Metabolic Disease, 34, 283-92
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: Candidate gene, Mitochondrial Diseases, Time Factors, Genotype, Mitochondrial disease, Biopsy, Mitochondrion, Biology, Bioinformatics, Models, Biological, Oxidative Phosphorylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Medicine, Adenosine Triphosphate, Genetic variation, medicine, Genetics, Animals, Humans, Genetics(clinical), Genetics (clinical), Cells, Cultured, Muscle biopsy, medicine.diagnostic_test, Genetic Variation, Fibroblasts, medicine.disease, Human genetics, Mitochondria, Muscle, Oxygen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2748cc64f95245b24229eb45d018c02Test
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المؤلفون: Niek J. de Wit, Suhreta Mujakovic, Robert J.F. Laheij, G.A.J. Fransen, Jan B.M.J. Jansen, J. André Knottnerus, Corine van Marrewijk, M. Samsom, Mattijs E. Numans, Jean W M Muris
المصدر: BMC Medical Research Methodology, 7, 16-1-16
BMC Medical Research Methodology, 7, pp. 16-1-16
BMC Medical Research Methodology
BMC Medical Research Methodology, Vol 7, Iss 1, p 16 (2007)مصطلحات موضوعية: Adult, Male, Blinding, Debate, Epidemiology, media_common.quotation_subject, Health Informatics, Protocol Deviation, Drug Administration Schedule, law.invention, Genomic disorders and inherited multi-system disorders [IGMD 3], External validity, Double-Blind Method, Randomized controlled trial, law, Humans, Medicine, Quality (business), Internal validity, Dyspepsia, Molecular gastro-enterology and hepatology [IGMD 2], Netherlands, Randomized Controlled Trials as Topic, media_common, Protocol (science), lcsh:R5-920, Medical education, Dose-Response Relationship, Drug, Primary Health Care, business.industry, Patient Selection, Proton Pump Inhibitors, Patient recruitment, Treatment Outcome, Histamine H2 Antagonists, Genetic defects of metabolism [UMCN 5.1], Research Design, Female, lcsh:Medicine (General), business, Follow-Up Studies, Clinical psychology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b047a38015d2502bfc79815ea415fbf5Test
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المؤلفون: Michael Kwint, Bas E. Dutilh, Gert Flik, Joris A. Veltman, Kornelia Neveling, Mike S. M. Jetten, Peter H.M. Klaren, Huub J. M. Op den Camp, Maartje A. H. J. van Kessel
المصدر: AMB Express
Amb Express, 1, 1-9
Amb Express, 1, pp. 1-9
AMB Express; Vol 1
Amb Express, 1, 41-41
European Research Council (ERC)
NARCIS
Digital Repository Infrastructure Vision for European Research
HEALTH FP7 Publications Database
Europe PubMed Centralمصطلحات موضوعية: Original, Biophysics, Applied Microbiology and Biotechnology, Microbiology, Clostridia, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Common carp, Gammaproteobacteria, 16S rRNA, Carp, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), 030304 developmental biology, biodiversity, 0303 health sciences, biology, 030306 microbiology, carp, Planctomycetes, Bacteroidetes, biology.organism_classification, 16S ribosomal RNA, pyrosequencing, aquaculture, Ecological Microbiology, Pyrosequencing, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Organismal Animal Physiology, intestinal tract, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], human activities
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8cb6d742d83aa62e6fd120bc8ad0767Test
