نتائج البحث - "genomic disorders"

المصدر: Clinical Oral Investigations, 17, 5, pp. 1437-45
Clinical Oral Investigations, 17(5), 1437-1445. SPRINGER HEIDELBERG
Clinical Oral Investigations, 17, 1437-45

مصطلحات موضوعية: Male, SUPERNUMERARY TEETH, Molar, Three dimensional analysis, Dentistry, OLIGODONTIA, Crown dimensions, IMAGE-ANALYSIS SYSTEM, Odontometry, Missense mutation, Child, Netherlands, Orthodontics, HYPOHIDROTIC ECTODERMAL DYSPLASIA, Models, Dental, Incisor, medicine.anatomical_structure, TAURODONTISM, Mutation (genetic algorithm), Female, Congenitally missing teeth, DENTAL AGENESIS, Adult, Taurodontism, Adolescent, 3D analysis, GENETIC-BASIS, Mutation, Missense, INHERITED ANOMALIES, Biology, Statistics, Nonparametric, Young Adult, Imaging, Three-Dimensional, stomatognathic system, medicine, Humans, General Dentistry, Aged, Anodontia, MSX1 Transcription Factor, Tooth Crown, Analysis of Variance, Tooth Abnormalities, business.industry, Hypodontia, Dental Models, Evaluation of complex medical interventions Translational research [NCEBP 2], medicine.disease, stomatognathic diseases, SIZE, Evaluation of complex medical interventions [NCEBP 2], Case-Control Studies, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, MSX1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f25c480334c3c4491ea89eecdf9e94eTest
https://doi.org/10.1007/s00784-012-0828-8Test

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Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction

المؤلفون: Helen Stewart, Patricia A. Jacobs, David A. Koolen, Christelle Borel, Andrew J. Sharp, Stephan Eliez, N. Simon Thomas, Fanny Cheung, Christopher Phillips

المصدر: Human Genetics, Vol. 131, No 9 (2012) pp. 1519-24
Human genetics
Human Genetics, 131, 1519-24
Human Genetics, 131, 9, pp. 1519-24

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77079db7956ac29117bd517195514444Test
https://doi.org/10.1007/s00439-012-1180-4Test

9

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

المؤلفون: Lambert P. van den Heuvel, Dineke Westra, Elena B. Volokhina, Nicole C. A. J. van de Kar, Matthew C. Pickering, Katherine A. Vernon

المصدر: Journal of Human Genetics, 57, 459-64
Journal of Human Genetics, 57, 7, pp. 459-64
Journal of human genetics

مصطلحات موضوعية: complement regulation, Male, Complement Pathway, Alternative, DNA Mutational Analysis, atypical HUS, Complement Membrane Attack Complex, urologic and male genital diseases, medicine.disease_cause, 0302 clinical medicine, hemic and lymphatic diseases, Child, Conserved Sequence, Genetics (clinical), Atypical Hemolytic Uremic Syndrome, Renal disorder [IGMD 9], Genetics & Heredity, Genetics, 0303 health sciences, Mutation, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], PROTEIN-5, Middle Aged, 3. Good health, Renal disorder Membrane transport and intracellular motility [IGMD 9], Factor H, Female, Life Sciences & Biomedicine, genetic defects, CFHR5, Heterozygote, medicine.medical_specialty, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Molecular Sequence Data, Biology, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Article, Young Adult, 03 medical and health sciences, Molecular genetics, Atypical hemolytic uremic syndrome, medicine, Humans, Amino Acid Sequence, Genetic Testing, 030304 developmental biology, 0604 Genetics, Science & Technology, MUTATIONS, 1103 Clinical Sciences, Complement System Proteins, medicine.disease, Complement system, MCP, Case-Control Studies, Hemolytic-Uremic Syndrome, Alternative complement pathway, Complement membrane attack complex, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1e45f076ed93050842a16d1f18b84bcTest
https://doi.org/10.1038/jhg.2012.57Test

10

NLRC4 inflammasomes in dendritic cells regulate noncognate effector function by memory CD8+ T cells

المؤلفون: Thomas Gebhardt, Sammy Bedoui, Hanwei Cao, Richard A. Strugnell, William R. Heath, Kirsty R. Short, Leif E. Sander, Odilia L. C. Wijburg, Jason Waithman, Greta Guarda, Weisan Chen, Andreas Kupz, Daniel Fernandez-Ruiz, Paul G. Whitney, Jürg Tschopp, Dimitri A. Diavatopoulos, Roy Curtiss

المصدر: Nature Immunology, 13, 2, pp. 162-9
Nature Immunology, 13, 162-9

مصطلحات موضوعية: Salmonella typhimurium, Inflammasomes, Interleukin-1beta, Immunology, Yersinia pseudotuberculosis Infections, Priming (immunology), CD8-Positive T-Lymphocytes, Biology, Microbiology, Genomic disorders and inherited multi-system disorders Auto-immunity, transplantation and immunotherapy [IGMD 3], Interferon-gamma, Mice, Interferon, medicine, Animals, Immunology and Allergy, Cytotoxic T cell, Pseudomonas Infections, IL-2 receptor, Salmonella Infections, Animal, Effector, Calcium-Binding Proteins, Toll-Like Receptors, Interleukin-18, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], Inflammasome, Dendritic Cells, medicine.anatomical_structure, Pseudomonas aeruginosa, Apoptosis Regulatory Proteins, Immunologic Memory, Memory T cell, Spleen, CD8, Flagellin, Signal Transduction, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc39ef0ac16657a6e4bae952345f5bfbTest
https://doi.org/10.1038/ni.2195Test

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