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1دورية أكاديمية
المؤلفون: Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana, Radu Popp
المصدر: Genes, Vol 14, Iss 1, p 69 (2022)
مصطلحات موضوعية: GJB2 (gap-junction protein β 2), connexin 26, autosomal recessive non-syndromic hearing loss, deafness, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
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
العلاقة: https://doaj.org/toc/0534-0012Test; https://doaj.org/toc/1820-6069Test; https://doaj.org/article/bab5d6430d0b47dba60278ef33def58dTest
الإتاحة: https://doi.org/10.2298/GENSR2201447DTest
https://doaj.org/article/bab5d6430d0b47dba60278ef33def58dTest -
3دورية أكاديمية
المؤلفون: Mahbobeh KOOHIYAN, Somayeh REIISI, Fatemeh AZADEGAN-DEHKORDI, Mansoor SALEHI, Hamidreza ABTAHI, Morteza HASHEMZADEH-CHALESHTORI, Mohammad Reza NOORI-DALOII, Mohammad Amin TABATABAIEFAR
المصدر: Iranian Journal of Public Health, Vol 48, Iss 9 (2019)
مصطلحات موضوعية: Autosomal recessive non-syndromic hearing loss (ARNSHL), DFNB loci, Homozygosity mapping, Iran, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://ijph.tums.ac.ir/index.php/ijph/article/view/18260Test; https://doaj.org/toc/2251-6085Test; https://doaj.org/toc/2251-6093Test
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4دورية أكاديمية
المؤلفون: Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona
المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: 3D modeling, Autosomal recessive non-syndromic hearing loss, DFNB68, Mixed hearing loss, S1PR2, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-018-0598-5Test; https://doaj.org/toc/1471-2350Test
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5دورية أكاديمية
المصدر: Intractable & Rare Diseases Research. 2021, 10(1):23
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6دورية أكاديمية
المؤلفون: Mahtab Khosrofar, Mohammad Reza Pourreza, Samira Asgharzadeh, Parisa Tahmasebi, Elahe Ali Asgari, Reza Ghasemikhah, Nader Saki, Javad Mohammadi-asl, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar
المصدر: Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, Vol 20, Iss 3, Pp 31-38 (2017)
مصطلحات موضوعية: Autosomal recessive non-syndromic hearing loss, DFNB21 locus, Genetic linkage., Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Azam Pourahmadiyan, Mohammad Amin Tabatabaiefar, Somayeh Reiisi, Paria Alipour, Najmeh Fattahi, Morteza Hashemzadeh-Chaleshtori
المصدر: مجله دانشکده پزشکی اصفهان, Vol 34, Iss 374, Pp 214-220 (2016)
مصطلحات موضوعية: DFNB40 locus, DFNB48 locus, Autosomal recessive non-syndromic hearing loss, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Reihaneh Alikhani, Fatemeh Ostaresh, Mojgan Babanejad, Nilofar Bazazzadegan, Hossein Najmabadi, Kimia Kahrizi
المصدر: Iranian Rehabilitation Journal, Vol 13, Iss 3, Pp 64-68 (2015)
مصطلحات موضوعية: Autosomal recessive non-syndromic hearing loss, Homozygosity mapping, Linkage analysis, Iran, Medicine, Vocational rehabilitation. Employment of people with disabilities, HD7255-7256
وصف الملف: electronic resource
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10
المؤلفون: Mona Mahfood, Rania Harati, Jihen Chouchen, Abdullah Al Mutery, Walaa Kamal Eddine Ahmad Mohamed, Abdelaziz Tlili
المصدر: Saudi Journal of Biological Sciences
Saudi Journal of Biological Sciences, Vol 28, Iss 8, Pp 4421-4429 (2021)مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, RFLP, restriction fragment length polymorphism, SAM, Sequence Alignment/Map, BWA, Burrows-Wheeler Aligner, 01 natural sciences, ARNSHL, autosomal recessive non-syndromic hearing loss, Non-syndromic hearing loss, NSHL, Non-syndromic hearing loss, Missense mutation, BAM, Binary Alignment Map, VariMAT, Variation and Mutation Annotation Toolkit, Biology (General), RT-qPCR, quantitative reverse transcription PCR, Exome sequencing, KCNQ3, Potassium Voltage-Gated Channel Subfamily Q Member 3, Genetics, WES, Whole exome sequencing, ST3GAL1, ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1, Mutation (genetic algorithm), gnomAD, genome aggregation database, Original Article, medicine.symptom, General Agricultural and Biological Sciences, GJB2, Gap Junction Protein Beta 2, gEAR, gene Expression Analysis Resource, Hearing loss, QH301-705.5, In silico, Biology, SJL, Swiss Jim Lambert, DNA sequencing, SPATA13, Spermatogenesis Associated 13, HL, Hearing loss, 03 medical and health sciences, PROVEAN, Protein Variation Effect Analyzer, UAE, United Arab Emirates, medicine, otorhinolaryngologic diseases, dpSNP, Single Nucleotide Polymorphism Database, Gene, Genetic heterogeneity, C1QTNF9, C1q and TNF related 9, Whole exome sequencing, SIFT, Sorting Intolerant From Tolerant, NGS, next generation sequencing, PolyPhen-2, Polymorphism Phenotyping v2, TMEM59, Transmembrane Protein 59, RT-PCR, reverse transcription PCR, 030104 developmental biology, HHLA1, HERV-H LTR-Associating 1, Cx26, Connexin 26, qPCR, quantitative PCR, ESRRAP2, Estrogen-Related Receptor Alpha Pseudogene 2, ROH, runs of homozygosity, 010606 plant biology & botany, GJB2 gene, Actb, Actin beta
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64784a76361bd03c51d0cb19e0388e9Test
http://europepmc.org/articles/PMC8324942Test
النص الكامل