المؤلفون: Masaaki Teranishi, Yoshinari Matsumoto, Masashi Akiyama, Kazumitsu Sugiura

المصدر: JAMA Dermatology. 149:1350

مصطلحات موضوعية: medicine.medical_specialty, Photophobia, Hearing loss, Hearing Loss, Sensorineural, Clouston syndrome, Mutation, Missense, Dermatology, Audiology, Connexins, Young Adult, Asian People, Ectodermal Dysplasia, Connexin 30, Humans, Medicine, biology, business.industry, Heterozygote advantage, medicine.disease, Connexin 26, Mutation (genetic algorithm), biology.protein, Female, Sensorineural hearing loss, medicine.symptom, business, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7a327074ad9ed5b641a279a3ebf84bTest
https://doi.org/10.1001/jamadermatol.2013.4766Test

المؤلفون: Moshe Frydman, Chava Muchnik, Riki Taitelbaum-Swead, Lela Megirov, Jona Kronenberg, Liat Kishon-Rabin, Karen B. Avraham, Minka Hildesheimer, Zippora Brownstein

المصدر: Archives of Otolaryngology–Head & Neck Surgery. 132:495

مصطلحات موضوعية: Male, medicine.medical_specialty, Speech perception, Hearing loss, medicine.medical_treatment, DNA Mutational Analysis, Deafness, Audiology, Polymerase Chain Reaction, Connexins, Speech Reception Threshold Test, Cochlear implant, Outcome Assessment, Health Care, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Child, Retrospective Studies, biology, business.industry, Genetic Carrier Screening, Homozygote, Infant, Cognition, Retrospective cohort study, General Medicine, Connexin 26, Cochlear Implants, Otorhinolaryngology, Child, Preschool, Speech Perception, biology.protein, Etiology, Female, Surgery, sense organs, Chromosome Deletion, medicine.symptom, business, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7c349dd3a7760468c388abbd530194Test
https://doi.org/10.1001/archotol.132.5.495Test

المؤلفون: Hubert Journel, Jean-Louis Delaunoy, Sebastien Albert, Valérie Drouin-Garraud, Delphine Feldmann, Sylvie Odent, Hélène Dollfus, Natalie Loundon, Jacqueline Vigneron, Catherine Calais, Clarisse Baumann, Françoise Denoyelle, Marie-Madeleine Eliot, Alain Joannard, Christine Petit, Laurence Faivre, Albert David, Erea-Noel Garabedian, Marie-Françoise Obstoy, Bruno Delobel, Rémy Couderc, Cyril Goizet, Sébastien Schmerber, Jocelyne Hélias, Bettina Montaut, Françoise Duriez, Hélène Catros, Hélène Blons, Cédric Lemarechal, Isabelle Rouillon, Florence Fellmann, Sandrine Marlin, Pierre Chauvin, Patricia Lewin, Jacques Leman, Dominique Matin-Coignard

المصدر: Archives of Otolaryngology–Head & Neck Surgery. 131:481

مصطلحات موضوعية: Mild hearing impairment, medicine.medical_specialty, Genotype, Hearing loss, DNA Mutational Analysis, Compound heterozygosity, medicine.disease_cause, Connexins, Internal medicine, Connexin 30, otorhinolaryngologic diseases, medicine, Humans, Prospective Studies, Hearing Disorders, Allele frequency, Genetics, Mutation, biology, medicine.diagnostic_test, business.industry, General Medicine, Connexin 26, Phenotype, Otorhinolaryngology, biology.protein, Surgery, Chromosome Deletion, medicine.symptom, Audiometry, business, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11138a94c659c9e40aacda3499f7e307Test
https://doi.org/10.1001/archotol.131.6.481Test

المؤلفون: Daryl A. Scott, George Woodworth, Joshua M. McDonald, Val C. Sheffield, Glenn E. Green, Richard J.H. Smith

المصدر: JAMA. 281:2211

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, biology, medicine.diagnostic_test, Hearing loss, business.industry, Genetic counseling, General Medicine, Audiology, Compound heterozygosity, Congenital hearing loss, medicine.disease, otorhinolaryngologic diseases, medicine, biology.protein, Sensorineural hearing loss, Nonsyndromic deafness, medicine.symptom, business, GJB6, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::86faef11d6eb31525cebe459b2f252a1Test
https://doi.org/10.1001/jama.281.23.2211Test