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1دورية أكاديمية
المؤلفون: Tingang Wonkam, E., Chimusa, E., Noubiap, J.J., Adadey, S.M., F Fokouo, J.V., Wonkam, A.
مصطلحات موضوعية: Hearing impairment, genetics, GJB2 and GJB6, Cameroon, Africa, Humans, Hearing Loss, Sensorineural, Connexins, Pedigree, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Preschool, Infant, Female, Male, Connexin 30
وصف الملف: application/pdf
العلاقة: Genes, 2019; 10(11):1-9; https://hdl.handle.net/2440/132658Test
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المؤلفون: Tristan Rey, Abigail Williams, Carla Nishimura, Kirsty McWalter, Alex Cummings, Agnès Bloch-Zupan, Francesca Clementina Radio, Bruno Dallapiccola, Dusica Babovic-Vuksanovic, Maria Lisa Dentici, Emanuele Agolini, Filippo Vairo, J. Austin Hamm, Jennifer A. Sullivan, Kelly Schoch, Brendan C. Lanpher, Chelsea Roadhouse, Ingrid M. Wentzensen, Richard J.H. Smith, Alejandro Ferrer, Arun Ankala, Chumei Li, Sara Loddo, Bradley Bowles, Dario Cocciadiferro, Bénédicte Gérard, Nicholas Stong, Eric W. Klee, Silvia Genovese, Vandana Shashi, Bruno Leheup
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Male, Ectodermal dysplasia, Hearing loss, TSPEAR, Cohort Studies, otorhinolaryngologic diseases, Genetics, medicine, Humans, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, hearing loss, Anodontia, Genetic testing, medicine.diagnostic_test, biology, business.industry, Genetic Variation, Proteins, Original Articles, medicine.disease, Phenotype, ectodermal dysplasia, Pedigree, Radiography, Amino Acid Substitution, Genetic Loci, Mutation, biology.protein, Original Article, Female, medicine.symptom, business, GJB6, autosomal recessive deafness, tooth agenesis, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baabaedf2843598fccc6efac1caa34cdTest
https://doi.org/10.1002/ajmg.a.62347Test -
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المؤلفون: Shuaihantian Luo, Guiying Zhang, Zixin Pi, Yi Zhan
المصدر: Hereditas, Vol 157, Iss 1, Pp 1-4 (2020)
Hereditasمصطلحات موضوعية: Adult, Male, 0106 biological sciences, China, Ectodermal dysplasia, medicine.medical_specialty, lcsh:QH426-470, Prenatal diagnosis, Gene mutation, 01 natural sciences, 03 medical and health sciences, GJB6, Ectodermal Dysplasia, Connexin 30, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Recurrent mutation, Chinese family, Gene, Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, biology, Brief Report, Sequence analysis, Hidrotic ectodermal dysplasia, Sequence Analysis, DNA, General Medicine, medicine.disease, Dermatology, Pedigree, lcsh:Genetics, Phenotype, Mutation, Gene mutations, biology.protein, Female, 010606 plant biology & botany
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::838b83adbda8fa986f1bdcd451e6b029Test
http://link.springer.com/article/10.1186/s41065-020-00148-8Test -
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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
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e84700c97917f1397e1225500cc6d7Test
https://doi.org/10.1016/j.bjorl.2018.12.005Test -
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المؤلفون: Binnur Bagci, Küçük Kurtulgan H, Malik Ejder Yildirim, Öztürk Özdemir, Emine Elif Altuntaş, Ilhan Sezgin
المصدر: Journal of International Advanced Otology, Vol 15, Iss 3, Pp 373-378 (2019)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Turkey, Hearing loss, Hearing Loss, Sensorineural, Consanguinity, Gene mutation, Compound heterozygosity, Connexins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Connexin 30, medicine, Humans, Child, Allele frequency, Aged, biology, business.industry, Homozygote, General Medicine, Middle Aged, lcsh:Otorhinolaryngology, medicine.disease, lcsh:RF1-547, Connexin 26, 030104 developmental biology, Otorhinolaryngology, Child, Preschool, Mutation, Mutation (genetic algorithm), biology.protein, Female, Original Article, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8677aa9db44a4718ee4546a0737816a2Test
https://doi.org/10.5152/iao.2019.5401Test -
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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: Min Chen, Xianqiu Yu, Yan Zhu, Dong-Ya Li, Yumei Li, Xiaofeng Shi, Qi Yan, Yichen Liu
المصدر: International Journal of Dermatology
مصطلحات موضوعية: Male, Ectodermal dysplasia, DNA Mutational Analysis, Case Report, Dermatology, Asian People, Ectodermal Dysplasia, Connexin 30, medicine, Humans, Chinese family, Genetics, biology, business.industry, Amino acid substitution, medicine.disease, Pedigree, Amino Acid Substitution, Child, Preschool, Mutation, Mutation (genetic algorithm), biology.protein, Female, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66df5778c92c59eafcb9f26013e671cbTest
https://doi.org/10.1111/ijd.14341Test -
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المؤلفون: Majid Mojarrad, Javad Chezgi, Maliheh Alimardani, Atieh Eslahi, Mashsa Farjami, Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan, Mohsen Rajati Haghi, Seyed Mojtaba Hosseini
المصدر: Fetal and Pediatric Pathology. 38:93-102
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Hearing loss, DNA Mutational Analysis, Cadherin Related Proteins, Nerve Tissue Proteins, Deafness, Iran, 030105 genetics & heredity, Pathology and Forensic Medicine, Iranian population, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, CDH23, Gene Frequency, otorhinolaryngologic diseases, Humans, Medicine, Child, Hearing Loss, Gene, Genetics, Sanger sequencing, 030219 obstetrics & reproductive medicine, Targeted mutation analysis, Myosin Heavy Chains, biology, business.industry, Genetic variants, Infant, General Medicine, Cadherins, Sulfate Transporters, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, symbols, Female, medicine.symptom, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10b312c9b6e0882c3220528a4ad6e58eTest
https://doi.org/10.1080/15513815.2018.1547336Test -
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المصدر: Disease Models & Mechanisms, Vol 14, Iss 1 (2021)
Disease Models & Mechanisms
article-version (VoR) Version of Recordمصطلحات موضوعية: Male, connexin, Medicine (miscellaneous), Morris water navigation task, Connexin, lcsh:Medicine, medicine.disease_cause, Open field, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), 0303 health sciences, Mutation, biology, Behavior, Animal, Homozygote, Brain, Female, Neuroglia, GJB6, Research Article, Hydrocephalus, lcsh:RB1-214, medicine.medical_specialty, Elevated plus maze, Ependymal Cell, mice, Neuroscience (miscellaneous), General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Sex Factors, Internal medicine, medicine, lcsh:Pathology, Animals, mutant, Maze Learning, gap junctions, 030304 developmental biology, Brain morphometry, lcsh:R, connexin 30, Mice, Mutant Strains, Disease Models, Animal, Endocrinology, Astrocytes, Connexin 43, biology.protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18444841682fbd404b3db089a891c729Test
http://dmm.biologists.org/content/14/1/dmm046235Test -
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المؤلفون: Yu Ding, Jianyong Lang, Hui Zheng, Jianfeng Xu, Lei Huai, Junkun Zhang, Xiangyu Lou, Xiaojiang Lin
المصدر: Bioscience Reports
مصطلحات موضوعية: Male, Heredity, RNA, Mitochondrial, DNA Mutational Analysis, Deafness, Biochemistry, Genome, Severity of Illness Index, Chinese pedigrees, Hearing, Age of Onset, Diagnostics & Biomarkers, Research Articles, Genetics, Sanger sequencing, biology, Middle Aged, Phenotype, Pedigree, symbols, Translational Science, Female, medicine.symptom, Variants of PCR, GJB6, Adult, China, Nuclear gene, Hearing loss, Sequence analysis, Biophysics, symbols.namesake, Young Adult, Asian People, Predictive Value of Tests, medicine, otorhinolaryngologic diseases, Humans, Genetic Predisposition to Disease, Molecular Biology, Aged, Cell Biology, MAS-PCR, mitochondrial 12S rRNA mutations, RNA, Ribosomal, Case-Control Studies, Mutation, biology.protein, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39f35fd1b52dee87281b4e2194c54b61Test
http://europepmc.org/articles/PMC7263198Test