المؤلفون: Liu, Wei, Rask-Andersen, Helge

المصدر: Frontiers in Molecular Neuroscience. 15

مصطلحات موضوعية: human, cochlea, GJB2, GJB6, RNAscope, in situ hybridization

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-486974
https://doi.org/10.3389/fnmol.2022.973646
https://uu.diva-portal.org/smash/get/diva2:1705539/FULLTEXT01.pdf

المؤلفون: Carlos De la Torre-González, Dina Villanueva-García, Constanza García-Delgado, Salvador Castillo-Castillo, Marisol Huante-Guido, Josefina Chichitz-Madrigal, María E. Juárez-Torres, Ana L. Sánchez-Sandoval, Eira V. Barrón-Palma, Verónica F. Morán-Barroso

المصدر: Boletín Médico del Hospital Infantil de México, Vol 79, Iss 4 (2022)

مصطلحات موضوعية: Congenital hearing loss. Congenital deafness. Mexican population. GJB2. GJB6., Pediatrics, RJ1-570, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.bmhim.com/frame_esp.php?id=315; https://doaj.org/toc/0539-6115

URL الوصول: https://doaj.org/article/0dabe409cafd42d4819f400ce49b8dad

المؤلفون: Somayeh Ebrahimkhani, Golnaz Asaadi Tehrani

المصدر: Iranian Journal of Otorhinolaryngology, Vol 33, Iss 2, Pp 79-86 (2021)

مصطلحات موضوعية: arnshl, gjb2, gjb6, polymorphism, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: https://ijorl.mums.ac.ir/article_17589_d3c6dc757882c8472ecfd3430be409bd.pdf; https://doaj.org/toc/2251-7251; https://doaj.org/toc/2251-726X

URL الوصول: https://doaj.org/article/65265a4fadbe408f9e0f9c228b6f0c9a

المؤلفون: Schüffner, Raíssa de Oliveira Aquino, Nascimento, Karla Lima, Dias, Fábio André, Silva, Pedro Henrique Teodoro da, Pires, Wrgelles Godinho Bordone, Cipriano Junior, Nilson Moreira, Santos, Luciana Lara dos

المصدر: Brazilian Journal of Otorhinolaryngology. June 2020 86(3)

مصطلحات موضوعية: Hearing loss, GJB2, GJB6, Brazil

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942020000300327

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

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

URL الوصول: https://doaj.org/article/8a2679135b024ff7a20a0d0adc3d6768

المؤلفون: Raíssa de Oliveira Aquino Schüffner, Karla Lima Nascimento, Fábio André Dias, Pedro Henrique Teodoro da Silva, Wrgelles Godinho Bordone Pires, Nilson Moreira Cipriano, Junior, Luciana Lara dos Santos

المصدر: Brazilian Journal of Otorhinolaryngology, Vol 86, Iss 3, Pp 327-331 (2020)

مصطلحات موضوعية: Perda auditiva, GJB2, GJB6, Brasil, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1808869418303264; https://doaj.org/toc/1808-8694

URL الوصول: https://doaj.org/article/aa108194ebde4147933e1c014eadd6e7

المؤلفون: Torre-González,Carlos de la, Villanueva-García,Dina, García-Delgado,Constanza, Castillo-Castillo,Salvador, Huante-Guido,Marisol, Chichitz-Madrigal,Josefina, Juárez-Torres,María E., Sánchez-Sandoval,Ana L., Barrón-Palma,Eira V., Morán-Barroso,Verónica F.

المصدر: Boletín médico del Hospital Infantil de México v.79 n.4 2022

مصطلحات موضوعية: Congenital hearing loss, Congenital deafness, Mexican population, GJB2, GJB6

وصف الملف: text/html

الاتاحة: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S1665-11462022000400206

المؤلفون: Defourny, Jean, Thiry, Marc

المصدر: Developmental Dynamics (2022-09-26)

مصطلحات موضوعية: Cochlea, Connexin 26, Connexin 30, Gap junctions, GJB2, GJB6, Hearing loss, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

Relation: urn:issn:1058-8388; urn:issn:1097-0177; https://orbi.uliege.be/handle/2268/295230; info:hdl:2268/295230; https://orbi.uliege.be/bitstream/2268/295230/1/Defourny%20and%20Thiry%2c%202022%20.pdf; info:pmid:36106826

الاتاحة: https://orbi.uliege.be/handle/2268/295230
https://orbi.uliege.be/bitstream/2268/295230/1/Defourny%20and%20Thiry%2c%202022%20.pdf
https://doi.org/10.1002/dvdy.538

المؤلفون: Dobrić Bojana, Radivojević Danijela, Ječmenica Jovana, Fanis Pavlos, Neocleous Vassos, Phylactou Leonidas A., Đurišić Marina

المصدر: Genetika, Vol 54, Iss 1, Pp 447-456 (2022)

مصطلحات موضوعية: autosomal recessive non-syndromic hearing loss, gjb2 gene, gjb6 gene, variants, Genetics, QH426-470

Relation: https://doaj.org/toc/0534-0012; https://doaj.org/toc/1820-6069; https://doaj.org/article/bab5d6430d0b47dba60278ef33def58d

الاتاحة: https://doi.org/10.2298/GENSR2201447D
https://doaj.org/article/bab5d6430d0b47dba60278ef33def58d

المؤلفون: Jorge, Catarina de Jesus dos Santos

المساهمون: Simão, Marco António Alveirinho Cabrita, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Surdez, DFNB1, Conexinas, GJB2, GJB6, Otorrinolaringologia, Domínio/Área Científica::Ciências Médicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/42888

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

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

URL الوصول: https://doaj.org/article/8e140fa3577c452ba05f12832f18e30b

المؤلفون: Lu, Yuting, Zhang, Ruili, Wang, Zhenying, Zhou, Shuhua, Song, Yali, Chen, Lamei, Chen, Nan, Liu, Wenmin, Ji, Canan, Wu, Wangli, Zhang, Li

المصدر: Brazilian Journal of Medical and Biological Research. January 2018 51(9)

مصطلحات موضوعية: Clouston syndrome, GJB6 gene, Connexin 30, Caspase, Apoptosis

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000900611

المؤلفون: Defourny, Jean, Thelen, Nicolas, Thiry, Marc

المصدر: Belgian Brain Congress 2018, 19 octobre 2018

مصطلحات موضوعية: hearing loss, GJB2, GJB6, connexin 26, connexin 30, gap junction, cochlea, actin, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire

Relation: https://www.frontiersin.org/Community/AbstractDetails.aspx?ABS_DOI=10.3389/conf.fnins.2018.95.00004&eid=5697&sname=Belgian_Brain_Congress_2018_1

URL الوصول: https://orbi.uliege.be/handle/2268/228770

المؤلفون: Correia, Bárbara Isabel de Carvalho

المساهمون: Caria, Maria Helena, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Presbiacusia, Estudos funcionais, locus DFNB1, Mutações em GJB2 e GJB6, Teses de mestrado - 2017, Departamento de Biologia Vegetal

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10451/30529

المؤلفون: Lazăr Călin, Popp Radu, Al-Khzouz Camelia, Mihuț Gheorghe, Grigorescu-Sido Paula

المصدر: Romanian Journal of Laboratory Medicine, Vol 25, Iss 1, Pp 37-46 (2017)

مصطلحات موضوعية: connexin 26 and 30, gjb2 mutation, gjb6 mutation, sensorineural hearing loss, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2284-5623

URL الوصول: https://doaj.org/article/a0df45bbc4c849daad9022e36acc5bd7

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6c1cb5e247ccde2a7daf4c5d3a1dd4
https://doi.org/10.1016/j.bjorl.2021.02.012

المؤلفون: Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma

المصدر: Indian Journal of Dermatology, Vol 64, Iss 2, Pp 143-145 (2019)

مصطلحات موضوعية: Clouston syndrome, gjb6, hidrotic ectodermal dysplasia, hypotrichosis, keratoderma, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2019;volume=64;issue=2;spage=143;epage=145;aulast=Khatter; https://doaj.org/toc/0019-5154; https://doaj.org/toc/1998-3611

URL الوصول: https://doaj.org/article/b5c7d2fdd7124d34bfcf2afa10df3c37

المؤلفون: Mazzarda, Flavia, D'Elia, Annunziata, Massari, Roberto, De Ninno, Adele, Bertani, Francesca Romana, Businaro, Luca, Ziraldo, Gaia, Zorzi, Veronica, Nardin, Chiara, Peres, Chiara, Chiani, Francesco, Tettey-Matey, Abraham, Raspa, Marcello, Scavizzi, Ferdinando, Soluri, Alessandro, Salvatore, Anna Maria, Yang, Jun, Mammano, Fabio

المساهمون: Mazzarda, Flavia, D'Elia, Annunziata, Massari, Roberto, De Ninno, Adele, Bertani, Francesca Romana, Businaro, Luca, Ziraldo, Gaia, Zorzi, Veronica, Nardin, Chiara, Peres, Chiara, Chiani, Francesco, Tettey-Matey, Abraham, Raspa, Marcello, Scavizzi, Ferdinando, Soluri, Alessandro, Salvatore, Anna Maria, Yang, Jun, Mammano, Fabio

مصطلحات موضوعية: Gjb6, Panx1, ATP release, Ca2+ waves, deafness, organ of Corti, Development

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32700707; info:eu-repo/semantics/altIdentifier/wos/WOS:000558065700013; numberofpages:13; journal:LAB ON A CHIP; http://hdl.handle.net/11577/3346806; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089407130; https://pubs.rsc.org/en/content/articlepdf/2020/lc/d0lc00427h

الاتاحة: http://hdl.handle.net/11577/3346806
https://doi.org/10.1039/d0lc00427h
https://pubs.rsc.org/en/content/articlepdf/2020/lc/d0lc00427h

المؤلفون: Frontiers Production Office

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: hearing impairment, genetics, GJB2, GJB6, Ghana, Africa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.01151/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c41a1f5c0afa486c901fc075d56b8559

المؤلفون: Samuel M. Adadey, Noluthando Manyisa, Khuthala Mnika, Carmen de Kock, Victoria Nembaware, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Ambroise Wonkam

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: hearing impairment, genetics, GJB2 and GJB6, Ghana, Africa, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00841/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/855234770c8e43139389a56257fde263