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المؤلفون: Aisha N. Iskakova, Elena Zholdybaeva, Chin B. Eap, Erlan Ramanculov, Nuria Saigi-Morgui, Nurgul Sikhayeva
المصدر: BMC Medical Genetics
BMC medical genetics, vol. 18, no. 1, pp. 76
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-13 (2017)مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Genetic variants, Adolescent, Adult, Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics, Asian Continental Ancestry Group, Diabetes Mellitus, Type 2/genetics, Diabetes Mellitus, Type 2/pathology, Ethnic Groups, Fatty Acid-Binding Proteins/genetics, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Kazakhstan, Metabolic Syndrome X/genetics, Metabolic Syndrome X/pathology, Middle Aged, Obesity/genetics, Obesity/pathology, Polymorphism, Single Nucleotide, Risk Factors, Kazakh cohort, Metabolic syndrome, Obesity, Type 2 diabetes mellitus, endocrine system diseases, FTO gene, Ethnicity, Outpatient clinic, Genetics (clinical), Genetics, Metabolic Syndrome, education.field_of_study, SLC30A8, 3. Good health, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Cohort, Research Article, lcsh:Internal medicine, medicine.medical_specialty, lcsh:QH426-470, Population, Single-nucleotide polymorphism, Biology, Fatty Acid-Binding Proteins, 03 medical and health sciences, Asian People, Internal medicine, medicine, lcsh:RC31-1245, education, Case-control study, nutritional and metabolic diseases, lcsh:Genetics, 030104 developmental biology, Diabetes Mellitus, Type 2, biology.protein
وصف الملف: application/pdf
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المؤلفون: Danielle Majoor-Krakauer, François Pernot, Jean Boutarin, Florence Fellmann, Michaël Stumpf, Gilles Millat, Carolien H Teirlinck, Xavier André-Fouët, Rajae El Malti, Patrice Bouvagnet, Faïza Senni
المساهمون: Clinical Genetics
المصدر: BMC Medical Genetics
BMC Medical Genetics, vol. 13, no. 105, pp. 1-9
BMC Medical Genetics, Vol 13, Iss 1, p 105 (2012)
BMC Medical Genetics, 13. BioMed Central Ltd.مصطلحات موضوعية: Adult, Male, Sarcomeres, medicine.medical_specialty, lcsh:Internal medicine, Heterozygote, lcsh:QH426-470, Genotype, TNNT2, Cardiomyopathy, Biology, Sudden death, Gastroenterology, Death, Sudden, MYBPC3, Mutation Carrier, Risk Factors, Internal medicine, Genetics, medicine, Humans, Genetics(clinical), Age of Onset, lcsh:RC31-1245, Genetics (clinical), Biological Evolution, Cardiomyopathy, Hypertrophic/genetics, Cardiomyopathy, Hypertrophic/pathology, Carrier Proteins/genetics, Carrier Proteins/metabolism, Female, Founder Effect, Haplotypes, Middle Aged, Mutation, Sarcomeres/genetics, Haplotype, Hypertrophic cardiomyopathy, Founder effect, Cardiomyopathy, Hypertrophic, medicine.disease, lcsh:Genetics, Mutation (genetic algorithm), MYH7, Carrier Proteins, Research Article
وصف الملف: application/pdf
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المؤلفون: Víctor Manuel Barberá, Luis Bujanda, Clara Ruiz-Ponte, Lucía Pérez-Carbonell, Ángel Segura, Carla Guarinos, Ana Beatriz Sánchez-Heras, Cristina Alenda, Rafael Lázaro, Montserrat Andreu, María Isabel Castillejo, Artemio Payá, Xavier Llor, Juan Clofent, Rodrigo Jover, Ana Martínez-Cantó, Angel Carracedo, José Luis Soto, Cecilia Egoavil, Antoni Castells, Enrique Ochoa, Adela Castillejo
المساهمون: Transducción de Señales en Bacterias, Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría
المصدر: BMC MED GENET
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname
BMC MEDICAL GENETICS
r-FISABIO. Repositorio Institucional de Producción Científica
BMC Medical Genetics
Addi. Archivo Digital para la Docencia y la Investigación
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
BMC Medical Genetics, Vol 12, Iss 1, p 12 (2011)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
RUA. Repositorio Institucional de la Universidad de Alicante
Universidad de Alicante (UA)
Recercat. Dipósit de la Recerca de Catalunyaمصطلحات موضوعية: Proband, GENETICS AND HEREDITY, susceptibility, Genotype, Missense mutation, Genetics(clinical), Càncer -- Aspectes genètics, Genetics (clinical), Genetics, Estudios de Casos y Controles, Nuclear Proteins, Lynch syndrome, Index subject, nonpolyposis colorectal cancer, MLH1 gene, Microsatellite Instability, Malalties congènites, Colorectal Neoplasms, MutL Protein Homolog 1, Research Article, lcsh:Internal medicine, lcsh:QH426-470, Deleterious variant, Neoplasias Colorrectales Hereditarias sin Poliposis, Biology, MLH1, MSH6 Gene, Colorectal Neoplasms Hereditary Nonpolyposis, Genètica de poblacions humanes, missense mutations, Neoplasias Colorrectales, medicine, Humans, Family, Neutral variant, lcsh:RC31-1245, Proteínas Adaptadoras Transductoras de Señales, Adaptor Proteins, Signal Transducing, mircrosatellite instability, Signal Transducing, association, Case-control study, Microsatellite instability, medicine.disease, p.Lys618Ala, Genética, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Nuclear Proteins/genetics, MSH6, lcsh:Genetics, Case-Control Studies, Mutation, Genotipo
وصف الملف: application/pdf
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المؤلفون: Ali Rashidi-Nezhad, Homeira Saebnouri, Seyed Mohammad Akrami, Saeed Talebi, Alexandre Reymond
المصدر: BMC Medical Genetics
BMC Medical Genetics, vol. 15, pp. 75مصطلحات موضوعية: medicine.medical_specialty, gamma-Butyrobetaine Dioxygenase, CNV, Case Report, Mitochondrion, Biology, BBOX1, chemistry.chemical_compound, Biosynthesis, Carnitine, Intellectual Disability, Internal medicine, medicine, Genetics, Humans, Carnitine palmitoyltransferase II, Abnormalities, Multiple, Genetics(clinical), Ear Diseases, Primrose syndrome, Genetics (clinical), Comparative Genomic Hybridization, Fibin, Genome, Human, Chromosomes, Human, Pair 11, Homozygote, Calcinosis, Membrane Proteins, Renal Reabsorption, 3. Good health, Muscular Atrophy, Endocrinology, Biochemistry, chemistry, Child, Preschool, Female, Chromosome Deletion, Gamma-butyrobetaine dioxygenase, Carrier Proteins, Haploinsufficiency, Abnormalities, Multiple/pathology, Calcinosis/pathology, Carnitine/deficiency, Carnitine/metabolism, Carrier Proteins/genetics, Ear Diseases/pathology, Intellectual Disability/pathology, Membrane Proteins/genetics, Muscular Atrophy/pathology, gamma-Butyrobetaine Dioxygenase/genetics, Homeostasis, medicine.drug
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c47b57edd221fb3b21f48e8d71c46905
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المؤلفون: Leena Ala-Kokko, Jaro Karppinen, Jani Takatalo, Annaleena Okuloff, Jaakko Niinimäki, Minna Männikkö, Pasi J. Eskola, Anthi Kelempisioti, Svetlana Solovieva, You-Qiang Song, Osmo Tervonen, Kenneth M.C. Cheung, Marjo-Riitta Järvelin, Iita Daavittila, Roberto Blanco Sequeiros, Daniel W. Chan, Patrick Y. P. Kao, Ulla Karjalainen
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 153 (2011)مصطلحات موضوعية: Candidate gene, PROMOTER, Inheritance Patterns, Physiology, Intervertebral Disc Degeneration, DISEASE, Cohort Studies, 0302 clinical medicine, Genetics(clinical), Young adult, Pyrophosphatases, Genetics (clinical), Finland, Genetics, Genetics & Heredity, 0303 health sciences, Extracellular Matrix Proteins, Intervertebral Disc Degeneration - epidemiology - genetics - pathology, Interleukin-6 - genetics, ASSOCIATION, Magnetic Resonance Imaging, medicine.anatomical_structure, Cohort, Genetic Predisposition to Disease - genetics, Life Sciences & Biomedicine, Cohort study, LOW-BACK-PAIN, Research Article, lcsh:Internal medicine, LUMBAR, lcsh:QH426-470, Adolescent, Genotype, Biology, Polymorphism, Single Nucleotide, Extracellular Matrix Proteins - genetics, 03 medical and health sciences, Young Adult, Genetic predisposition, medicine, INTERMEDIATE LAYER PROTEIN, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, POLYMORPHISMS, Genetic Association Studies, 030304 developmental biology, 0604 Genetics, Science & Technology, Models, Genetic, Interleukin-6, Haplotype, Proteins, Intervertebral disc, 1103 Clinical Sciences, VITAMIN-D-RECEPTOR, Human genetics, lcsh:Genetics, Logistic Models, Haplotypes, OSTEOARTHRITIS, RISK-FACTORS, 030217 neurology & neurosurgery, Pyrophosphatases - genetics
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المؤلفون: Moira Chan-Yeung, Denise Daley, Peter D. Paré, Andrew J. Sandford, Dorota Stefanowicz, Jian Zhang, Catherine Laprise, Loubna Akhabir, Allan B. Becker
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 10, Iss 1, p 62 (2009)مصطلحات موضوعية: Male, 5' Flanking Region, Cohort Studies, 0302 clinical medicine, Rapid amplification of cDNA ends, Gene Frequency, Genetics(clinical), Child, Promoter Regions, Genetic, Hepatitis A Virus Cellular Receptor 2, Genetics (clinical), African Continental Ancestry Group, Genetics, 0303 health sciences, education.field_of_study, 5' Flanking Region - genetics, 3. Good health, Phenotype, Child, Preschool, Female, Membrane Proteins - genetics, Research Article, lcsh:Internal medicine, Canada, lcsh:QH426-470, Genotype, 5' flanking region, Population, Asthma - genetics, Black People, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Humans, Genetic Testing, Allele, lcsh:RC31-1245, education, Gene, Alleles, 030304 developmental biology, Haplotype, Infant, Membrane Proteins, Promoter, Molecular biology, Asthma, lcsh:Genetics, 030215 immunology
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