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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
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6c1cb5e247ccde2a7daf4c5d3a1dd4Test
https://doi.org/10.1016/j.bjorl.2021.02.012Test -
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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 -
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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: Pratibha Bhai, Ishwar C. Verma, Sunita Bijarnia Mahay, Ratna Dua Puri, Renu Saxena, Sangeeta Khatter
المصدر: Indian Journal of Dermatology, Vol 64, Iss 2, Pp 143-145 (2019)
Indian Journal of Dermatologyمصطلحات موضوعية: Ectodermal dysplasia, medicine.medical_specialty, gjb6, keratoderma, Case Report, Dermatology, hidrotic ectodermal dysplasia, hypotrichosis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, lcsh:Dermatology, Keratoderma, skin and connective tissue diseases, Generalized hypotrichosis, biology, integumentary system, business.industry, Genetic heterogeneity, lcsh:RL1-803, medicine.disease, Clouston syndrome, Palmoplantar keratoderma, Mutation (genetic algorithm), biology.protein, Hypotrichosis, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f89841223d7ebe63bc20224e9cc150a8Test
http://www.e-ijd.org/article.asp?issn=0019-5154;year=2019;volume=64;issue=2;spage=143;epage=145;aulast=KhatterTest -
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المؤلفون: Pratibha George, Teena Koshy, Ravi Kumar Arunachalam, Vettriselvi Venkatesan, Gladys Prathiba Dawson, Solomon F.D. Paul
المصدر: Laboratory Medicine. 51:56-65
مصطلحات موضوعية: Adult, Heterozygote, Pediatrics, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Genetic counseling, Clinical Biochemistry, India, Consanguinity, Connexins, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, Profound hearing impairment, Child, 030223 otorhinolaryngology, biology, business.industry, Incidence (epidemiology), Biochemistry (medical), Pedigree, Connexin 26, 030220 oncology & carcinogenesis, Mutation, biology.protein, medicine.symptom, business, Multiplex Polymerase Chain Reaction, Consanguineous Marriage, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c438b1003bc305102fff66447343e8Test
https://doi.org/10.1093/labmed/lmz027Test -
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المصدر: Auditio ; Vol. 4 No. 1 (2015); 21-31
Auditio; Vol. 4 Núm. 1 (2015); 21-31
Auditio
Asociación Española de Audiologíaمصطلحات موضوعية: medicine.medical_specialty, biology, Specific mutation, Hearing loss, medicine.medical_treatment, General Medicine, Audiology, genetica, Phenotype, Spanish population, Cochlear implant, biology.protein, medicine, OTOF, otorhinolaryngologic diseases, genetics, medicine.symptom, Age of onset, Hipoacusia, GJB6, hearing loss
وصف الملف: application/pdf; text/html; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24600d09e30f0b38ff623f447da272cfTest
https://journal.auditio.com/auditio/article/view/49Test -
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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: Giorgia Girotto, Daniela Mazza, Umberto Ambrosetti, Flavio Faletra, Claudio Graziano, Giulia Pelliccione, Elisabetta Cattaruzzi, Stefania Lenarduzzi, Marco Seri, Anna Morgan, Beatrice Spedicati, Flora Maria Murru, Marcella Zollino
المساهمون: Morgan, A., Lenarduzzi, S., Spedicati, B., Cattaruzzi, E., Murru, F. M., Pelliccione, G., Mazza, D., Zollino, M., Graziano, C., Ambrosetti, U., Seri, M., Faletra, F., Girotto, G., Morgan A., Lenarduzzi S., Spedicati B., Cattaruzzi E., Murru F.M., Pelliccione G., Mazza D., Zollino M., Graziano C., Ambrosetti U., Seri M., Faletra F., Girotto G.
المصدر: Genes, Vol 11, Iss 1237, p 1237 (2020)
Genes
Volume 11
Issue 11مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, Hearing loss, Deafness, DNA, Mitochondrial, Article, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, molecular diagnosis, Genetics, Connexin 30, Medicine, Humans, Multiplex ligation-dependent probe amplification, Genetic Testing, Genetics (clinical), Exome sequencing, Genetic testing, biology, medicine.diagnostic_test, business.industry, Genetic heterogeneity, Whole exome sequencing, Hereditary hearing lo, Hereditary hearing loss, MLPA, Molecular diagnosis, Connexin 26, lcsh:Genetics, 030104 developmental biology, Molecular diagnosi, Italy, Molecular Diagnostic Techniques, biology.protein, hereditary hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, GJB6, Non syndromic, STRC
وصف الملف: application/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2079416f79cd804fc5d2ef436d264dTest
https://www.mdpi.com/2073-4425/11/11/1237Test