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1
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 -
2
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: Regina Célia Mingroni-Netto, Karina Lezirovitz
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات 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
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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: 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: Victoria Nembaware, Osbourne Quaye, Geoffrey K. Amedofu, Carmen de Kock, Khuthala Mnika, Samuel Mawuli Adadey, Noluthando Manyisa, Gordon A. Awandare, Ambroise Wonkam
المصدر: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, medicine.disease_cause, Ghana, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, GJB2 and GJB6, otorhinolaryngologic diseases, medicine, Genetics, Gene, Genetics (clinical), Original Research, Sanger sequencing, Mutation, biology, hearing impairment, medicine.disease, 3. Good health, Clinical Practice, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Africa, symbols, biology.protein, Molecular Medicine, Meningitis, GJB6, Non syndromic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e1fe38f822e03de6932914af04f3ba0Test
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المؤلفون: Hossein Fahimi, Samira Behroozi, Farshid Parvini, Sadaf Noavar
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: Proband, Male, lcsh:Internal medicine, lcsh:QH426-470, Hearing loss, Genetic counseling, Iran, Deafness, symbols.namesake, Genetics, medicine, otorhinolaryngologic diseases, Missense mutation, Humans, lcsh:RC31-1245, Genetics (clinical), Exome sequencing, Genetic Association Studies, Sanger sequencing, biology, ARNSHL, lcsh:Genetics, Mutation (genetic algorithm), biology.protein, symbols, medicine.symptom, GJB6, PDZD7 gene, Research Article, Targeted exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e36f0840a64844783012833abcbc87c7Test
http://europepmc.org/articles/PMC7852090Test -
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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 -
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المؤلفون: Viviana Karina Dalamon, Leonela Natalia Luce, Sebastián Menazzi, Ana Belén Elgoyhen, Vanesa Lotersztein, Bibiana Paoli, Paula Inés Buonfiglio, Florencia Giliberto, Carlos David Bruque
المصدر: Genes
Genes, Vol 11, Iss 1233, p 1233 (2020)
Volume 11
Issue 10
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICETمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, CURATION, Hearing loss, Genetic counseling, Genomics, Bioinformatics, Article, purl.org/becyt/ford/1 [https], HEARING LOSS, 03 medical and health sciences, 0302 clinical medicine, GJB6, Genetics, otorhinolaryngologic diseases, Medicine, argentina, GENETIC VARIANTS, purl.org/becyt/ford/1.6 [https], Genetics (clinical), hearing loss, ARGENTINA, biology, Molecular pathology, business.industry, genetic variants, curation, GJB2, lcsh:Genetics, 030104 developmental biology, Categorization, Cohort, biology.protein, Medical genetics, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::248eab97a8b04c07b001b9146ee400aeTest
http://europepmc.org/articles/PMC7589744Test -
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المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)مصطلحات موضوعية: 0301 basic medicine, Heterozygote, lcsh:QH426-470, Genotype, Hearing loss, autosomal recessive nonsyndromic hearing loss, Hearing Loss, Sensorineural, connexin 26, 030105 genetics & heredity, Deafness, Iran, GJB2 mutation, Connexins, 03 medical and health sciences, Gene Frequency, Polymorphism (computer science), Genetics, medicine, otorhinolaryngologic diseases, Humans, Hearing Loss, Molecular Biology, Gene, Allele frequency, Genetics (clinical), Alleles, Sequence Deletion, GJB6 mutation, biology, Original Articles, Penetrance, connexin 30, lcsh:Genetics, 030104 developmental biology, Mutation, biology.protein, Original Article, medicine.symptom, Consanguineous Marriage, GJB6, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::335b30ddbeb017fbc2d91c14d465946cTest
http://europepmc.org/articles/PMC6625131Test
