المؤلفون: Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang

المصدر: Hereditas, Vol 157, Iss 1, Pp 1-4 (2020)

مصطلحات موضوعية: Hidrotic ectodermal dysplasia, Gene mutations, Sequence analysis, GJB6, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s41065-020-00148-8Test; https://doaj.org/toc/1601-5223Test

الوصول الحر: https://doaj.org/article/8a2679135b024ff7a20a0d0adc3d6768Test

المؤلفون: Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-24 (2018)

مصطلحات موضوعية: Assortative mating, GJB2 mutations, GJB6 mutations, DFNB1, Deafness, South India, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0609-6Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/8e140fa3577c452ba05f12832f18e30bTest

المؤلفون: Shuaihantian Luo, Guiying Zhang, Zixin Pi, Yi Zhan

المصدر: Hereditas, Vol 157, Iss 1, Pp 1-4 (2020)
Hereditas

مصطلحات 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

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 Genetics

مصطلحات 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

المؤلفون: Alfredo Repáraz-Andrade, María Isidoro-García, Noelia García-González, Mónica Viejo-Díaz, Ana Plasencia, Cristina Torreira-Banzas, Faustino Núñez-Batalla, Nancy Govea, Rebeca Álvarez, María Costales, Gonzalo R. Ordóñez, Noelia Sánchez-Durán, Marta Diñeiro, Raquel Capín, David Castillo, Justo R. Gómez-Martínez, Patricia C. Pruneda, Juan Cadiñanos, Jordi Rosell, Ángel Mazón-Gutiérrez, Belén García-Berrocal, José Luis Llorente, Inés Hernando, José Antonio Garrote, Rubén Cabanillas, Guadalupe A. Cifuentes

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, MYO15A, Gene panel, humanos, adolescente, genómica, INDEL Mutation, Gene duplication, OTOF, Medicine, Child, Exome, Diagnostics, Genetics (clinical), mediana edad, Genetics, biology, High-Throughput Nucleotide Sequencing, Genomics, Middle Aged, adulto, Precision, adulto joven, Phenotype, Hereditary, Child, Preschool, NGS, fenotipo, Sensorineural hearing loss, Female, GJB6, STRC, Research Article, Adult, lcsh:Internal medicine, lcsh:QH426-470, Adolescent, pérdida auditiva, 03 medical and health sciences, Young Adult, secuenciación de nucleótidos de alto rendimiento, mutación INDEL, otorhinolaryngologic diseases, Humans, lcsh:RC31-1245, Hearing Loss, lactante, business.industry, Infant, Newborn, Infant, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, Spain, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00944c691e692906bdbc488fb1deab92Test
https://hdl.handle.net/20.500.13003/9217Test

المؤلفون: Igor Medica, Borut Peterlin, Manuela Balaban, Gorazd Rudolf

المصدر: BMC Ear, Nose and Throat Disorders, Vol 5, Iss 1, p 11 (2005)
BMC Ear, Nose and Throat Disorders

مصطلحات موضوعية: Genetics, biology, business.industry, Locus (genetics), Bioinformatics, lcsh:Otorhinolaryngology, lcsh:RF1-547, Gjb2 gene, Otorhinolaryngology, biology.protein, Head and neck surgery, otorhinolaryngologic diseases, Medicine, business, Gene, Non syndromic, GJB6, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bb370a876ab03632837d69e570ebdecTest
http://www.biomedcentral.com/1472-6815/5/11Test