المؤلفون: Mohamed, Walaa

مرشدي الرسالة: Tlili, Abdelaziz, Almutery, Abdullah, Astroga, Francisco José

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Hipoacúsia no sindròmica, Hipoacusia no sindrómica, Nonsyndromic hearing loss, Malaltia hereditària, Enfermedad hereditaria, Hereditary disease, Mutacions, Mutaciones, Mutations, Ciències Experimentals

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/671272Test

المؤلفون: Luping Zhang, Danya Zheng, Lian Xu, Han Wang, Shuqiang Zhang, Jianhua Shi, Nana Jin

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: GAS2, Autosomal dominant nonsyndromic hearing loss, Protein degradation, Microtubule, Apoptosis, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/dccb136f7e7a4fcbaeab580c060b7996Test

المؤلفون: Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu, Ya-Lian Sa

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: SLC26A4, c.919-2A > G, c.2168 A > G, Gene variant, Nonsyndromic hearing loss, Chinese population, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/88e8048fa4a540c69bc971e45a951652Test

المؤلفون: Jef Driesen, Helen Van Hoecke, Leen Maes, Sandra Janssens, Frederic Acke, Els De Leenheer

المصدر: Genes, Vol 15, Iss 5, p 643 (2024)

مصطلحات موضوعية: CHARGE syndrome, CHD7 Genotype–phenotype, cochleovestibular audiometry, nonsyndromic hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/5/643Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/d2aa408d69994c19bc7fc33bee9282edTest

المؤلفون: Yan-Qiong Li, Heng Ma, Qin-Yao Wang, De-Sheng Liu, Wei Wang, Shi-Xin Li, Rong-Xia Zuo, Tao Shen, Bao-Sheng Zhu, Ya-Lian Sa

مصطلحات موضوعية: Genetics, SLC26A4, c.919-2A > G, c.2168 A > G, Gene variant, Nonsyndromic hearing loss, Chinese population

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Low_frequency_of_SLC26A4_c_919-2A_G_variant_among_patients_with_nonsyndromic_hearing_loss_in_Yunnan_of_Southwest_China/25255875Test

الإتاحة: https://doi.org/10.6084/m9.figshare.25255875.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Low_frequency_of_SLC26A4_c_919-2A_G_variant_among_patients_with_nonsyndromic_hearing_loss_in_Yunnan_of_Southwest_China/25255875Test

المؤلفون: Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wang

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: c.109G>A (p.Val37Ile), delayed onset, hearing loss, nonsyndromic hearing loss (NSHL), phenotypic heterogeneity, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/d083896be8d147c6aea872e31e829ab0Test

المؤلفون: Qiong Li, Shujuan Wang, Pengfei Liang, Wei Li, Jian Wang, Bei Fan, Yang Yang, Xiaogang An, Jun Chen, Dingjun Zha

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: DFNA5, Exon skipping, GSDME, Nonsyndromic hearing loss, RNA splicing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/8e8ccc429220487c9cb3489b497a5f7eTest

المؤلفون: Jiale Xiang, Yuan Jin, Nana Song, Sen Chen, Jiankun Shen, Wen Xie, Xiangzhong Sun, Zhiyu Peng, Yu Sun

المصدر: BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Isolated hearing loss, Genetic testing, Syndromic hearing loss, Nonsyndromic hearing loss mimics, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/616b5c7063cf461b832dd2cc0cf7d092Test

المؤلفون: Maryam Hajilari, Atefeh Sharifinya, Teymoor Khosravi, Anvarsadat Kianmehr, Mohammad Hossein Taziki, Ayyoob Khosravi, Morteza Oladnabi

المصدر: International Journal of Pediatrics, Vol 11, Iss 1, Pp 17286-17298 (2023)

مصطلحات موضوعية: hearing loss, ،c.35delg mutation, ،gjb2 gene, ،connexin 26, ،autosomal recessive nonsyndromic hearing loss (arnshl), Pediatrics, RJ1-570

العلاقة: https://ijp.mums.ac.ir/article_21658_d458432d44767aa8334eceb5c6a86f56.pdfTest; https://doaj.org/toc/2345-5047Test; https://doaj.org/toc/2345-5055Test; https://doaj.org/article/5fefe2ce3648451f911c649aad5c8458Test

الإتاحة: https://doi.org/10.22038/ijp.2023.69158.5122Test
https://doaj.org/article/5fefe2ce3648451f911c649aad5c8458Test

المؤلفون: Rosemary Ida Kabahuma, Wolf‐Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue‐Zhong Liu

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)

مصطلحات موضوعية: autosomal recessive nonsyndromic hearing loss, DFNB28, indigenous South Africans, TRIOBP R1 and R2 repeat motifs, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/3432dc163ba648008a39bd6d1476a3f6Test