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المؤلفون: Têmis Maria Félix, Leticia Petersen Schmidt Rosito, Sady Selaimen da Costa, Marina Faistauer, Renata Bohn, Alice Lang Silva, Liliane Todeschini de Souza
المصدر: Brazilian Journal of Otorhinolaryngology, Volume: 88 Supplement 1, Pages: 33-41, Published: 13 JAN 2023
مصطلحات موضوعية: Congênita, Pediatrics, medicine.medical_specialty, Hearing loss, Auditory neuropathy, Population, Conexina 26, Congenital, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Prevalence, otorhinolaryngologic diseases, medicine, Prevalência, Medical history, 030223 otorhinolaryngology, education, Lactente, education.field_of_study, biology, medicine.diagnostic_test, business.industry, Infant, Neuropatia auditiva, medicine.disease, Connexin 26, Auditory brainstem response, Otorhinolaryngology, biology.protein, Etiology, Audiometry, medicine.symptom, business, GJB6
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https://doi.org/10.1016/j.bjorl.2021.02.012Test -
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المؤلفون: Fábio André Dias, Raíssa de Oliveira Aquino Schüffner, Wrgelles Godinho Bordone Pires, Pedro Henrique Teodoro da Silva, Nilson Moreira Cipriano, Karla Lima Nascimento, Luciana Lara dos Santos
المصدر: Brazilian Journal of Otorhinolaryngology, Vol 86, Iss 3, Pp 327-331 (2020)
Brazilian Journal of Otorhinolaryngology v.86 n.3 2020
Brazilian Journal of Otorhinolaryngology
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
instacron:ABORL-CCF
Brazilian Journal of Otorhinolaryngology, Volume: 86, Issue: 3, Pages: 327-331, Published: 13 JUL 2020مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Hearing loss, Hearing Loss, Sensorineural, Population, Consanguinity, Polymerase Chain Reaction, Young Adult, GJB6, Epidemiology, otorhinolaryngologic diseases, medicine, Humans, Perda auditiva, Child, education, Allele frequency, education.field_of_study, biology, business.industry, Brasil, Incidence (epidemiology), lcsh:Otorhinolaryngology, medicine.disease, lcsh:RF1-547, GJB2, Otorhinolaryngology, Child, Preschool, Mutation, biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, Brazil
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https://doi.org/10.1016/j.bjorl.2018.12.005Test -
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المؤلفون: Marc Thiry, Jean Defourny, Nicolas Thelen
المصدر: Mechanisms of Development. 155:8-14
مصطلحات موضوعية: Embryology, Connexin, Deafness, Mice, 03 medical and health sciences, 0302 clinical medicine, Membrane region, Connexin 30, otorhinolaryngologic diseases, Animals, Homomeric, Cochlea, Actin, 030304 developmental biology, Mice, Inbred BALB C, 0303 health sciences, biology, Gap junction, Gap Junctions, Connexin 26, Biophysics, biology.protein, Membrane channel, 030217 neurology & neurosurgery, GJB6, Developmental Biology
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https://doi.org/10.1016/j.mod.2018.10.001Test -
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المؤلفون: Mohammad Amin Tabatabaiefar, Hamidreza Abtahi, Morteza Hashemzadeh-Chaleshtori, Mohammad Reza Noori-Daloii, Mohammad Reza Pourreza, Mahbobeh Koohiyan, Somayeh Reiisi, Mansoor Salehi
المصدر: International Journal of Pediatric Otorhinolaryngology. 107:121-126
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, Genotype, Hearing loss, Deafness, Iran, 030105 genetics & heredity, medicine.disease_cause, Compound heterozygosity, Connexins, Young Adult, 03 medical and health sciences, Multiplex polymerase chain reaction, otorhinolaryngologic diseases, medicine, Humans, Child, Gene, Genetics, Mutation, biology, business.industry, Homozygote, Heterozygote advantage, General Medicine, Connexin 26, 030104 developmental biology, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Female, medicine.symptom, business, Multiplex Polymerase Chain Reaction, GJB6
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https://doi.org/10.1016/j.ijporl.2018.01.012Test -
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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: Jean Defourny, Marc Thiry
المصدر: Hearing Research. 400:108137
مصطلحات موضوعية: 0301 basic medicine, Connexin, Proximity ligation assay, Connexins, Adherens junction, 03 medical and health sciences, 0302 clinical medicine, Connexin 30, otorhinolaryngologic diseases, Humans, Lipid raft, Cochlea, biology, Chemistry, Cadherin, Gap junction, Gap Junctions, Adherens Junctions, Sensory Systems, Cell biology, Connexin 26, 030104 developmental biology, biology.protein, Membrane channel, 030217 neurology & neurosurgery, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c1816882b42a84414746c03d8e09deTest
https://doi.org/10.1016/j.heares.2020.108137Test -
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المؤلفون: Bassel Al-Halabi, Walid Al-Achkar, Bashar Ali, Faten Moassass
المصدر: International Journal of Pediatric Otorhinolaryngology. 92:82-87
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Genotype, Hearing loss, Hearing Loss, Sensorineural, Population, 030105 genetics & heredity, Compound heterozygosity, Polymerase Chain Reaction, Connexins, 03 medical and health sciences, Connexin 30, Humans, Medicine, education, Sequence Deletion, Genetics, education.field_of_study, Splice site mutation, Syria, biology, business.industry, Exons, General Medicine, medicine.disease, Connexin 26, 030104 developmental biology, Otorhinolaryngology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, Multiplex Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, GJB6
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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: Huijun Wang, Jinghua Yin, Jianguo Zhang, Xu Cao, Lanlan Dai, Liu Xuanzhu, Zhimiao Lin, Lina Duo, Jie Zhang, Jiahui Zhao, Yong Yang, Zhanli Tang
المصدر: Gene. 566:84-88
مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutation, Missense, Biology, Hypotrichosis, Compound heterozygosity, Bioinformatics, Connexins, Electron Transport Complex III, symbols.namesake, Genetics, medicine, Humans, Missense mutation, Child, Hearing Loss, Exome, Exome sequencing, Sanger sequencing, Björnstad syndrome, General Medicine, medicine.disease, Connexin 26, Codon, Nonsense, symbols, biology.protein, ATPases Associated with Diverse Cellular Activities, Female, Hair Diseases, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879657bd24366ddfb448f495cf944cb1Test
https://doi.org/10.1016/j.gene.2015.04.039Test -
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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
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