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المؤلفون: Osbourne Quaye, Elvis Twumasi Aboagye, Gordon A. Awandare, Maame Boatemaa Ansong, Edmond Wonkam-Tingang, Samuel Mawuli Adadey, Daniel Wonder Nayo-Gyan, Ambroise Wonkam
المساهمون: Division of Human Genetics, Faculty of Health Sciences
المصدر: Life, Vol 10, Iss 258, p 258 (2020)
Lifeمصطلحات موضوعية: 0301 basic medicine, connexin, Connexin, gap junction protein, Review, Biology, Gene mutation, General Biochemistry, Genetics and Molecular Biology, GJC1, 03 medical and health sciences, 0302 clinical medicine, systematic review, gene variant, otorhinolaryngologic diseases, Allele, 030223 otorhinolaryngology, lcsh:Science, Gene, Ecology, Evolution, Behavior and Systematics, Genetics, Paleontology, GJB2, 030104 developmental biology, Systematic review, Space and Planetary Science, biology.protein, lcsh:Q, GJB6, Non syndromic
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27e5b3a9358feac3918ab0957be5f2adTest
https://www.mdpi.com/2075-1729/10/11/258Test -
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المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Proband, Heterozygote, MYO15A, Adolescent, Epidemiology, Hearing loss, lcsh:Medicine, medicine.disease_cause, Mutation screening, Connexins, Young Adult, Next generation sequencing, otorhinolaryngologic diseases, OTOF, medicine, Humans, Pharmacology (medical), Allele, Child, Alleles, Genetic Association Studies, Genetics (clinical), Aged, Genetics, Molecular Epidemiology, Mutation, biology, Research, lcsh:R, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Middle Aged, GJB2, Connexin 26, Child, Preschool, biology.protein, Female, medicine.symptom, GJB6, STRC
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e6867d60658ab507a8f1bb4e9164914Test
https://doi.org/10.1186/s13023-020-1311-2Test -
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المؤلفون: Jean-Christophe Leclere, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Marie-Suzanne Le Gac
المصدر: International Journal of Pediatric Otorhinolaryngology. 102:80-85
مصطلحات موضوعية: Male, 0301 basic medicine, Databases, Factual, Genotype, Hearing Loss, Sensorineural, 030105 genetics & heredity, medicine.disease_cause, Compound heterozygosity, Connexins, 03 medical and health sciences, Audiometry, Connexin 30, Prevalence, otorhinolaryngologic diseases, medicine, Humans, Profound hearing impairment, Allele, Hearing Loss, Retrospective Studies, Genetics, Mutation, biology, business.industry, Haplotype, General Medicine, Connexin 26, Phenotype, 030104 developmental biology, Haplotypes, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, biology.protein, Microsatellite, Female, business, Multiplex Polymerase Chain Reaction, GJB6, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b3d47f8ea59189ecdd41099b8f3d9aTest
https://doi.org/10.1016/j.ijporl.2017.09.011Test -
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المؤلفون: I. V. Kanivets, A. V. Polyakov, E. A. Bliznetz
المصدر: Russian Journal of Genetics. 53:795-803
مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, Copy number analysis, Locus (genetics), Compound heterozygosity, medicine.disease, Molecular biology, Human genetics, 03 medical and health sciences, 030104 developmental biology, otorhinolaryngologic diseases, biology.protein, medicine, Sensorineural hearing loss, Allele, Gene, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::52708faf05e4440fe7ca83e03e82da4bTest
https://doi.org/10.1134/s1022795417050027Test -
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المؤلفون: Silpita Paul, Bidisha Adhikary, Biswabandhu Bankura, Biswanath Maity, Arup Kumar Pattanayak, Madhusudan Das, Sudakshina Ghosh, Subhradev Biswas
المصدر: Gene. 573:239-245
مصطلحات موضوعية: Male, Biallelic Mutation, Hearing loss, DNA Mutational Analysis, India, Deafness, Biology, medicine.disease_cause, Connexins, Gene Frequency, Connexin 30, Prevalence, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Gene, Allele frequency, Genetic Association Studies, Mutation, Base Sequence, Membrane Transport Proteins, General Medicine, medicine.disease, Connexin 26, Sulfate Transporters, Case-Control Studies, biology.protein, Female, sense organs, medicine.symptom, GJB6, Enlarged vestibular aqueduct
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37d885b574749af1b762cb7674145e88Test
https://doi.org/10.1016/j.gene.2015.07.050Test -
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المؤلفون: Kaitian Chen, Xuan Wu, Ling Zong, Hongyan Jiang
المصدر: Journal of Clinical Laboratory Analysis. 32
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), Genetics, Hearing loss, Biochemistry (medical), Clinical Biochemistry, Public Health, Environmental and Occupational Health, Heterozygote advantage, Hematology, 030105 genetics & heredity, Biology, Genetic analysis, 03 medical and health sciences, Medical Laboratory Technology, 030104 developmental biology, Mutation (genetic algorithm), otorhinolaryngologic diseases, medicine, biology.protein, Immunology and Allergy, medicine.symptom, Allele, Gene, Exome sequencing, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::48caa8a1c6438471f7ff394526573b1bTest
https://doi.org/10.1002/jcla.22592Test -
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المؤلفون: Francisco J. del Castillo, Ignacio del Castillo
المصدر: Frontiers in Molecular Neuroscience
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Frontiers in Molecular Neuroscience, Vol 10 (2017)مصطلحات موضوعية: 0301 basic medicine, inner ear, Locus (genetics), Review, Compound heterozygosity, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, GJB6, medicine, otorhinolaryngologic diseases, Inner ear, Allele, Molecular Biology, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, DFNB1, Genetics, connexin-30, biology, Point mutation, hearing impairment, Phenotype, GJB2, 030104 developmental biology, medicine.anatomical_structure, biology.protein, connexin-26, sense organs, 030217 neurology & neurosurgery, Neuroscience
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a1cfb41d36f2044e1246519ffc4cd9cTest
http://europepmc.org/articles/PMC5743749Test -
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المؤلفون: Rocco Bruno, Chiara Di Bella, Maria Amorini, Patrizia Longo, Carmelo Salpietro, Silvana Briuglia, Luciana Rigoli, Petronilla Daniela Romeo, Francesco Galletti
المصدر: Annals of Human Genetics. 79:341-349
مصطلحات موضوعية: Genetics, Hearing loss, Connexin, Biology, medicine.disease, Compound heterozygosity, Genetic analysis, otorhinolaryngologic diseases, medicine, biology.protein, Nonsyndromic deafness, Allele, medicine.symptom, Gene, Genetics (clinical), GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0fc08caf395224a9a6d1b17be5a6ca0aTest
https://doi.org/10.1111/ahg.12120Test -
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المؤلفون: Ruan Felipe Vieira Medrano, Ana Paula Grillo, Edi Lúcia Sartorato, Flávia Marcorin de Oliveira, Sueli Matilde da Silva-Costa, Camila Andréa de Oliveira, Gabriela Queila de Carvalho
المصدر: BioMed Research International, Vol 2015 (2015)
BioMed Research Internationalمصطلحات موضوعية: Male, Article Subject, Hearing loss, lcsh:Medicine, Single-nucleotide polymorphism, Locus (genetics), Deafness, Polymorphism, Single Nucleotide, Connexins, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Allele, Gene, Genetics, General Immunology and Microbiology, biology, lcsh:R, Genetic Diseases, Inborn, General Medicine, Phenotype, Molecular biology, Connexin 26, Genetic Loci, biology.protein, Female, medicine.symptom, GJB6, Research Article
وصف الملف: text/xhtml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3687ec98891558b893fe888d5dc1cdfTest
https://doi.org/10.1155/2015/318727Test -
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المؤلفون: Andrés López-Cortés, Indira Proaño, César Paz-y-Miño, Doyle Beaty
المصدر: International Journal of Pediatric Otorhinolaryngology. 78:1648-1654
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Hearing loss, Population, Polymerase Chain Reaction, Genetic analysis, Connexins, Young Adult, otorhinolaryngologic diseases, medicine, Humans, Genetic Testing, Allele, Hearing Loss, education, Alleles, Aged, Genetics, education.field_of_study, Polymorphism, Genetic, biology, Genetic heterogeneity, Exons, General Medicine, Middle Aged, Penetrance, Connexin 26, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Female, Ecuador, medicine.symptom, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::774aa7635c78ed03c42780f314eeab72Test
https://doi.org/10.1016/j.ijporl.2014.07.014Test