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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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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: 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: 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: Junsong Liu, Dong Ma, Zhan Wang, Rui Chen, Xiangming Che, Yijiang Han
مصطلحات موضوعية: Prognostic factor, Text mining, biology, Expression (architecture), Colorectal cancer, business.industry, medicine, biology.protein, Cancer research, medicine.disease, business, GJB6
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6a45cad0fe35445589d5828dbc3f32dcTest
https://doi.org/10.21203/rs.3.rs-709485/v1Test -
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المؤلفون: Jean Valentin F. Fokouo, Jean Jacques Noubiap, Samuel Mawuli Adadey, Edmond Wonkam, Ambroise Wonkam, Emile R. Chimusa
المصدر: Genes
Volume 10
Issue 11
Genes, Vol 10, Iss 11, p 844 (2019)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, Usher syndrome, Connexin, medicine.disease_cause, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Multiplex polymerase chain reaction, medicine, otorhinolaryngologic diseases, GJB2 and GJB6, genetics, Cameroon, Genetics (clinical), Sanger sequencing, Genetics, Mutation, biology, Waardenburg syndrome, business.industry, hearing impairment, medicine.disease, lcsh:Genetics, 030104 developmental biology, Africa, symbols, biology.protein, business, 030217 neurology & neurosurgery, GJB6, Non syndromic
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd0ac28ffc791ba3245c122dc78f6f0Test
http://europepmc.org/articles/PMC6895965Test -
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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: Rafieh Alizadeh, Maryam Balali, Masoumeh Falah, Alimohamad Asghari, Massoud Houshmand, Zohreh Bagher, Mohammad Farhadi
المصدر: Fetal and Pediatric Pathology. 39:1-12
مصطلحات موضوعية: 0301 basic medicine, 030219 obstetrics & reproductive medicine, Massive parallel sequencing, biology, medicine.diagnostic_test, business.industry, First line, General Medicine, Computational biology, 030105 genetics & heredity, DNA sequencing, Pathology and Forensic Medicine, Molecular analysis, 03 medical and health sciences, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, otorhinolaryngologic diseases, biology.protein, medicine, business, Gene, GJB6, Genetic testing, Heterogeneous disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1a0cd01daeb704736860a456cccbc13eTest
https://doi.org/10.1080/15513815.2019.1627625Test -
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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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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