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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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6c1cb5e247ccde2a7daf4c5d3a1dd4Test
https://doi.org/10.1016/j.bjorl.2021.02.012Test

المؤلفون: Lazăr Călin, Popp Radu, Al-Khzouz Camelia, Mihuț Gheorghe, Grigorescu-Sido Paula

المصدر: Romanian Journal of Laboratory Medicine, Vol 25, Iss 1, Pp 37-46 (2017)

مصطلحات موضوعية: connexin 26 and 30, gjb2 mutation, gjb6 mutation, sensorineural hearing loss, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2284-5623Test

الوصول الحر: https://doaj.org/article/a0df45bbc4c849daad9022e36acc5bd7Test

المؤلفون: Diego Mariano, Cindy Yukimi Sonoda, Juliana Sampaio-Silva, Osório Abath-Neto, Vinicius Pedroso-Campos, Estefany Uchoa da Silva de Oliveira Longati, Karina Lezirovitz, Ana Carla Batissoco, Ricardo Ferreira Bento, Rafaela Jesus-Santos, Jeanne Oiticica, Ana Cristina Hiromi Hoshino, Gleiciele Alice Vieira-Silva, Robinson Koji Tsuji, Eliete Pardono

المصدر: Human Genetics. 141:519-538

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Hearing loss, Auditory neuropathy, Population, Connexins, Cohort Studies, Genetics, medicine, Humans, Genetic Testing, Hearing Loss, education, Genetics (clinical), education.field_of_study, biology, Waardenburg syndrome, Genetic heterogeneity, medicine.disease, Human genetics, Connexin 26, Mutation, biology.protein, medicine.symptom, Brazil, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8dbb6ace2476ee6c79c9728d37428eTest
https://doi.org/10.1007/s00439-021-02372-2Test

المؤلفون: Francesco Longo, Aurelio D'Ecclesia, Marco Castori, Rocco Pio Ortore, Eleonora M C Trecca, Antonio Petracca, Salvatore Melchionda, Orazio Palumbo, Ciro Lucio Vigliaroli, Maria Pia Leone, Lucia Micale

المصدر: Audiology Research
Audiology Research, Vol 11, Iss 41, Pp 443-451 (2021)

مصطلحات موضوعية: Genetics, Hearing loss, Pseudogene, OTO, Locus (genetics), Case Report, autosomal recessive, Biology, Compound heterozygosity, medicine.disease, otoancorin, RF1-547, Otorhinolaryngology, deafness, medicine, biology.protein, Sensorineural hearing loss, Allelic heterogeneity, medicine.symptom, microdeletion, Gene, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb9f3d4fd7005cb8fd89877357c1f96dTest
http://europepmc.org/articles/PMC8482239Test

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

المؤلفون: Shuaihantian Luo, Guiying Zhang, Zixin Pi, Yi Zhan

المصدر: Hereditas, Vol 157, Iss 1, Pp 1-4 (2020)
Hereditas

مصطلحات 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

المؤلفون: Regina Célia Mingroni-Netto, Karina Lezirovitz

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Candidate gene, Latin Americans, Hearing loss, media_common.quotation_subject, Black People, Deafness, Biology, Connexins, Genetic etiology, Genetics, medicine, Humans, Hearing Loss, Genetics (clinical), media_common, MUTAÇÃO GENÉTICA, Inheritance (genetic algorithm), Human genetics, Connexin 26, Latin America, Evolutionary biology, Mutation, biology.protein, medicine.symptom, GJB6, Diversity (politics)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c91bf3f0ea70763e1bfae02f56f4b65Test

المؤلفون: Keyi Wang, Jianhang Leng, Qinxian Guo, Yu Ding, Liuchun Yang

المصدر: Journal of Clinical Laboratory Analysis. 36

مصطلحات موضوعية: Microbiology (medical), Genetics, Mitochondrial DNA, Mutation, Nuclear gene, biology, Sequence analysis, Biochemistry (medical), Clinical Biochemistry, Public Health, Environmental and Occupational Health, Hematology, medicine.disease_cause, Haplogroup, Medical Laboratory Technology, Transfer RNA, biology.protein, medicine, Immunology and Allergy, Gene, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d7c5aadcc16a6140fc2acbb50354858aTest
https://doi.org/10.1002/jcla.24102Test

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 2020

مصطلحات 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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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e84700c97917f1397e1225500cc6d7Test
https://doi.org/10.1016/j.bjorl.2018.12.005Test

المؤلفون: Sug Hyung Lee, Nam Jin Yoo, Chang Hyeok An, Hyun Ji Son

المصدر: Pathology & Oncology Research. 26:1983-1987

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Connexin, Biology, medicine.disease_cause, Connexins, Pathology and Forensic Medicine, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Stomach Neoplasms, Connexin 30, medicine, Humans, Claudin-5, Frameshift Mutation, Claudin, neoplasms, Mutation, Tight junction, Microsatellite instability, General Medicine, medicine.disease, digestive system diseases, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Claudins, Cancer research, biology.protein, Colorectal Neoplasms, Carcinogenesis, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8885118096cab19379427aed1dcff745Test
https://doi.org/10.1007/s12253-020-00806-2Test