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1دورية أكاديمية
المؤلفون: Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-24 (2018)
مصطلحات موضوعية: Assortative mating, GJB2 mutations, GJB6 mutations, DFNB1, Deafness, South India, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0609-6Test; https://doaj.org/toc/1471-2350Test
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المؤلفون: N. P. Karthikeyen, Murugesan Kalaimathi, Jayasankaran Chandru, Paridhy Vanniya. S, C. R. Srikumari Srisailapathy, Rajagopalan Ramakrishnan, Pavithra Amritkumar, Justin Margret Jeffrey
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-24 (2018)
BMC Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Hearing loss, Offspring, Hearing Loss, Sensorineural, India, Locus (genetics), Consanguinity, Gene mutation, Biology, Deafness, GJB6 mutations, Connexins, 03 medical and health sciences, Assortative mating, 0302 clinical medicine, Gene Frequency, Genetics, medicine, otorhinolaryngologic diseases, Humans, Hearing Loss, lcsh:RC31-1245, Allele frequency, Genetics (clinical), DFNB1, South India, Connexin 26, lcsh:Genetics, 030104 developmental biology, GJB2 mutations, 030220 oncology & carcinogenesis, Mutation, biology.protein, Female, medicine.symptom, GJB6, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62133fe99b7556264bc036152c118a9cTest
http://link.springer.com/article/10.1186/s12881-018-0609-6Test -
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المؤلفون: Hossein Fahimi, Sadaf Noavar, Farshid Parvini, Majid Foroutan, Samira Behroozi, Taraneh Tatarcheh
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Male, 0301 basic medicine, Proband, Case Report, Iran, 030105 genetics & heredity, Connexins, Exon, SLC29A3, Medicine, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, biology, Homozygote, Exons, Middle Aged, Pedigree, Connexin 26, Mutation (genetic algorithm), symbols, Female, GJB6, Adult, lcsh:Internal medicine, Contracture, lcsh:QH426-470, Hearing Loss, Sensorineural, Genetic counseling, Nucleoside Transport Proteins, Frameshift mutation, SLC29A3-disorder, 03 medical and health sciences, symbols.namesake, Connexin 30, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Genetic Association Studies, Base Sequence, business.industry, Frame-shift mutation, lcsh:Genetics, Diabetes Mellitus, Type 1, 030104 developmental biology, biology.protein, business, Histiocytosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dac48df1685abb1d0dcd7dcc3b78738Test
https://doi.org/10.1186/s12881-019-0879-7Test -
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المؤلفون: Carine Templin, Patricia Blanchet, Dorothée Leprevost, Nathalie Pallares-Ruiz, Françoise Artières, Geneviève Lina, Michel Mondain, Mireille Claustres, Nicolas Molinari, Anne Vielle, Anne-Françoise Roux, Valérie Faugère
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 5, Iss 1, p 5 (2004)مصطلحات موضوعية: lcsh:Internal medicine, lcsh:QH426-470, Genotype, Hearing loss, Genetic counseling, Hearing Loss, Sensorineural, Population, DNA Mutational Analysis, Bilateral Deafness, Connexins, Gene Frequency, Genetics, medicine, otorhinolaryngologic diseases, Humans, Genetics(clinical), lcsh:RC31-1245, education, Allele frequency, Genetics (clinical), education.field_of_study, Polymorphism, Genetic, biology, Molecular epidemiology, DNA, medicine.disease, Connexin 26, lcsh:Genetics, Mutation, biology.protein, Sensorineural hearing loss, France, medicine.symptom, GJB6, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5695cbdb9df868c08bc67f00ff52a3Test
https://pubmed.ncbi.nlm.nih.gov/15070423Test -
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المؤلفون: Maria Carolina Costa Melo Svidnicki, Fábio Martins, Arthur Menino Castilho, P.Z. Ramos, Edi Lúcia Sartorato
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Genotyping, Genotype, Hearing loss, Single-nucleotide polymorphism, High-throughput, Deafness, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Connexins, medicine, OTOF, TaqMan, otorhinolaryngologic diseases, Genetics, Connexin 30, Humans, Point Mutation, Genetics(clinical), Genetics (clinical), biology, Genetic heterogeneity, Membrane Transport Proteins, Crystallins, Connexin 26, Sulfate Transporters, biology.protein, Reagent Kits, Diagnostic, medicine.symptom, OpenArray™, GJB6, Gene Deletion, Software, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e022ee423c65486229437ec49c1046Test
http://europepmc.org/articles/PMC4015212Test -
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المؤلفون: Nathalie Pallares-Ruiz, Ludmila P. Osipova, Anne-Françoise Roux, Olga L. Posukh, Mireille Claustres, Vera N Tadinova
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 6, Iss 1, p 12 (2005)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, Population, DNA Mutational Analysis, Deafness, Connexins, Genetic drift, medicine, otorhinolaryngologic diseases, Genetics, Humans, Genetics(clinical), Genetic Testing, education, lcsh:RC31-1245, Child, Genetics (clinical), Genetic testing, Aged, education.field_of_study, medicine.diagnostic_test, biology, Molecular screening, Cytogenetics, Middle Aged, Mitochondria, Connexin 26, Siberia, lcsh:Genetics, Child, Preschool, Mutation (genetic algorithm), biology.protein, Female, GJB6, Founder effect, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc59d1aac75fd7d4e27a5ddb38d9ff8dTest