المؤلفون: Mustafa Tekin, Duygu Duman, Armagan Incesulu, S Taşır-Yılmaz, Seyra Erbek, Hatice Ozturkmen-Akay, Asli Sirmaci, Hilal Özdağ

المصدر: Clinical Genetics. 75:562-567

مصطلحات موضوعية: Turkey, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Consanguinity, Biology, Compound heterozygosity, Polymorphism, Single Nucleotide, Connexins, Gene Frequency, Genetics, medicine, Humans, Point Mutation, Genetic Testing, Allele frequency, Genetics (clinical), Base Sequence, Genome, Human, Point mutation, Haplotype, Membrane Proteins, DNA, medicine.disease, Connexin 26, Amino Acid Substitution, Haplotypes, Sensorineural hearing loss, medicine.symptom, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::268edae124d06e86e333edb583c31744Test
https://doi.org/10.1111/j.1399-0004.2009.01183.xTest

المؤلفون: Duygu Duman, Suna Tokgoz-Yilmaz, Hatice Ozturkmen-Akay, Seda Taşır-Yılmaz, Fazilet Altın, Asli Sirmaci, Hilal Özdağ, E. Berrin Yüksel-Konuk, Ismail Yilmaz, Müzeyyen Yıldırım, Suat Fitoz, Seyra Erbek, Burcu Öztürk-Hişmi, Mustafa Tekin, Abdullah Ayçiçek, Aylin Hasanefendioğlu-Bayrak, İdil Aslan, Filiz Basak Cengiz, Armagan Incesulu, Z. Serap Arıcı

المصدر: International Journal of Pediatric Otorhinolaryngology. 73:699-705

مصطلحات موضوعية: Turkey, Hearing loss, Hearing Loss, Sensorineural, Nonsense mutation, Locus (genetics), Consanguinity, DNA, Mitochondrial, Polymerase Chain Reaction, Connexins, otorhinolaryngologic diseases, medicine, Humans, Point Mutation, Missense mutation, DNA Primers, Genetics, Splice site mutation, business.industry, Homozygote, Membrane Proteins, Exons, General Medicine, Disease gene identification, medicine.disease, Introns, Pedigree, Connexin 26, Phenotype, Haplotypes, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Sensorineural hearing loss, medicine.symptom, business, Bone Conduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2ee423f7bef9d0fea920aca5731be00Test
https://doi.org/10.1016/j.ijporl.2009.01.005Test

المؤلفون: Richard J.H. Smith, Alessandra Murgia, István Sziklai, Pierangela Castorina, Małgorzata Mueller-Malesińska, Nele Hilgert, Ewa Nowakowska, Graça Fialho, Alessandro Martini, Erdmute Kunstmann, Ignacio del Castillo, Lut Van Laer, Felipe Moreno, Doris Nekahm-Heis, Cyril Goizet, Carla Nishimura, Guy Van Camp, Elena Mennucci, Agata Skórka, Stephen Vlaeminck, Paul Van de Heyning, Mustafa Tekin, Michael B. Petersen, Ashley Q. Thorburn, Virginia W. Norris, Petr Janoušek, Anne Françoise Roux, Jerzy Bal, Nele Dieltjens, Guenaëlle Lancelot, Delphine Feldmann, Tímea Tóth, Pavel Seeman, Andreas R. Janecke, Eva Orzan, Jaroslaw Waligora, Karianne Hostmark, Matthew J. Huentelman, Klemens Frei, Ingeborg Dhooge, Catherine Blanchet, Paul J. Govaerts, Vasiliki Vivian Iliadou, Erik Fransen, Umberto Ambrosetti, Karen Grønskov, Agnieszka Pollak, Kathleen S. Arnos, Françoise Denoyelle, Paola Primignani, Armagan Incesulu, Ouyang Xiaomei, Rafał Płoski, Sandrine Marlin, Arti Pandya, Xue Zhong Liu, Helena Caria

المصدر: European journal of immunogenetics

مصطلحات موضوعية: Single-nucleotide polymorphism, Genome-wide association study, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Connexins, Article, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Genetic variation, Genotype, Genetics, medicine, Humans, Polymorphism, Hearing Loss, 030223 otorhinolaryngology, Gene, Genetics (clinical), 030304 developmental biology, Connexin 26, Genetic Variation, Genome-Wide Association Study, Homozygote, Mutation, Phenotype, 0303 health sciences, Single Nucleotide, Major gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa90443768531eb313131f5514fb942Test
https://doi.org/10.1038/ejhg.2008.201Test

المؤلفون: Armagan Incesulu, Mustafa Tekin, Duygu Akcayoz

المصدر: American Journal of Medical Genetics Part A. :6-10

مصطلحات موضوعية: Male, Turkey, Hearing loss, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Auditory neuropathy, Mutation, Missense, Genes, Recessive, Locus (genetics), Biology, Polymerase Chain Reaction, Connexins, otorhinolaryngologic diseases, Genetics, medicine, OTOF, Humans, Missense mutation, Amino Acid Sequence, Child, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Family Health, Binding Sites, Base Sequence, Sequence Homology, Amino Acid, medicine.diagnostic_test, Membrane Proteins, Audiogram, medicine.disease, Pedigree, Connexin 26, Auditory brainstem response, Female, Pure tone audiometry, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e3da48078dc3fbd2c461c25d1d3337Test
https://doi.org/10.1002/ajmg.a.30907Test

المؤلفون: Burcu Ozturk Hismi, Suna Yilmaz, Armagan Incesulu, Mustafa Tekin

المصدر: International journal of pediatric otorhinolaryngology. 70(10)

مصطلحات موضوعية: Proband, Adult, Male, Turkish population, Adolescent, Genotype, Turkey, Hearing loss, Population, Biology, Connexins, otorhinolaryngologic diseases, medicine, Humans, Genetic Testing, education, Child, Hearing Loss, Genetic testing, Genetics, education.field_of_study, medicine.diagnostic_test, Homozygote, Auditory Threshold, General Medicine, Audiogram, Connexin 26, Phenotype, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Audiometry, Pure-Tone, Regression Analysis, Female, medicine.symptom, Audiometry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94691e8912b72daf42f384839ca4cffTest
https://pubmed.ncbi.nlm.nih.gov/16712961Test

المؤلفون: Pascale Hilbert, Carla Nishimura, Patrick L. M. Huygen, Francesca Gualandi, Eva Orzan, Jaroslaw Waligora, István Sziklai, Anne Françoise Roux, Delphine Feldmann, Edward S. Cohn, Felipe Moreno, Rafał Płoski, Heidi L. Rehm, Philip M. Kelley, Doris Nekahm-Heis, Kim Cryns, Sandrine Marlin, Pierangela Castorina, Nikolaus Blin, Cor W. R. J. Cremers, Alessandro Martini, Geneviève Lina-Granade, Deirdre Lucas, Paul Van de Heyning, Hans Henrik M. Dahl, Margaret A. Kenna, Françoise Denoyelle, Desirée du Sart, Nele Hilgert, Markus Pfister, Maria Bitner-Glindzicz, Lucy Jenkins, Lies H. Hoefsloot, Armagan Incesulu, Heikki Löppönen, Iris Schrijver, Tuija Löppönen, Rikkert L. Snoeckx, Umberto Ambrosetti, Céu Correia, Małgorzata Mueller-Malesińska, Lionel Van Maldergem, O. Bendová, Graça Fialho, Ignacio del Castillo, Tímea Tóth, Nathalie Pallares-Ruiz, Jerzy Bal, Agnete Parving, Joseph B. Roberson, Wojciech Wiszniewski, Karen B. Avraham, Ewa Nowakowska-Szyrwinska, Guy Van Camp, Alessandra Murgia, Richard J.H. Smith, Agneszka Pollak, Anna Frangulov, Michel Mondain, Pavel Seeman, Andreas R. Janecke, Karen Grønskov, Zippora Brownstein, Mustafa Tekin

المصدر: American Journal of Human Genetics, 77, 945-57
American Journal of Human Genetics, 77, 6, pp. 945-57
The American journal of human genetics

مصطلحات موضوعية: Male, DNA Mutational Analysis, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Connexins, 0302 clinical medicine, Gene Frequency, Genotype, Perception and Action [DCN 1], Neurosensory disorders [UMCN 3.3], Multicenter Studies as Topic, Genetics(clinical), 030223 otorhinolaryngology, Child, Genetics (clinical), Genetics, 0303 health sciences, medicine.diagnostic_test, biology, Homozygote, Articles, Middle Aged, 3. Good health, Connexin 26, Child, Preschool, Female, medicine.symptom, Functional Neurogenomics [DCN 2], GJB6, Adult, medicine.medical_specialty, Heterozygote, Adolescent, Hearing loss, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Audiometry, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, Allele, Hearing Loss, Allele frequency, Alleles, 030304 developmental biology, Aged, Retrospective Studies, business.industry, Genetic heterogeneity, Infant, Newborn, Infant, Cross-Sectional Studies, Mutation, biology.protein, Linear Models, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b088a403539b4866dcf8e41df96427bTest
https://pubmed.ncbi.nlm.nih.gov/16380907Test