المؤلفون: Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng

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

مصطلحات موضوعية: EYA1 gene, Branchio-oto-renal syndrome, Whole-exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/3af2a963f61941838169b602feab7d12Test

المؤلفون: Wibowo, Indra

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

مرشدي الرسالة: López-Schier, Hernán

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Eya1, signaling territories, tissue homeostasis, zebrafish lateral line, polaridad celular planar, inversión celular, simetria bilateral, celulas ciliadas, macroH2A, epigenética

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/38434Test

المؤلفون: Anhai Chen, Jie Ling, Xin Peng, Xianlin Liu, Shuang Mao, Yongjia Chen, Mengyao Qin, Shuai Zhang, Yijiang Bai, Jian Song, Zhili Feng, Lu Ma, Dinghua He, Lingyun Mei, Chufeng He, Yong Feng

المصدر: Clinical and Experimental Otorhinolaryngology, Vol 16, Iss 4, Pp 342-358 (2023)

مصطلحات موضوعية: hearing loss, eya1, alternative splicing, correction of hearing impairment, Medicine, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

العلاقة: http://www.e-ceo.org/upload/pdf/ceo-2023-00668.pdfTest; https://doaj.org/toc/1976-8710Test; https://doaj.org/toc/2005-0720Test

الوصول الحر: https://doaj.org/article/c466b5735caf4d77b3a02bb09804c767Test

المؤلفون: Jun He, Ahmad Mahmoudi, Yu Gu, Jinfeng Fu, Qiulin Yuan, Wei Liu

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: branchiootic syndrome, EYA1 gene mutation, whole exome sequencing, secretory otitis media, vestibular hypofunction, case report, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1292085/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/f8c7c502075d41c0bbf31782286ec56fTest

المؤلفون: Shuangli Zhu, Wanling Li, Hao Zhang, Yuheng Yan, Qi Mei, Kongming Wu

المصدر: Biomarker Research, Vol 11, Iss 1, Pp 1-20 (2023)

مصطلحات موضوعية: The retinal determinant gene network, DACH1, SIX1, EYA1, Cancer, Chronic kidney disease, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-7771Test

الوصول الحر: https://doaj.org/article/ff0cca005e864e14a0a52aa76639d2e2Test

المؤلفون: Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Branchio-oto-renal syndrome, Deafness, EYA1, Copy number variation – case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/8030015ccf53465ba0ce88cd1561ec68Test

المؤلفون: Ting Zhang, Pin-Xian Xu

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: Eya1, Eya2, tongue, taste bud, type II taste cells, circumvallate and foliate papillae, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2023.1126968/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/93ef9700ebf24eb5aa6a8442bf794e47Test

المؤلفون: Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)

مصطلحات موضوعية: Africa, Branchio‐otic syndrome, EYA1, Mali, syndromic hearing impairment, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/ca03eeb61eff4b5fbd4945c6bd94d3c1Test

المؤلفون: Cacciatori, Elena, Aleo, Sebastiano, Scuvera, Giulietta, Rigon, Chiara, Marchisio, Paola Giovanna, Cassina, Matteo, Milani, Donatella

المساهمون: E. Cacciatori, S. Aleo, G. Scuvera, C. Rigon, P.G. Marchisio, M. Cassina, D. Milani

مصطلحات موضوعية: Branchio-oto-renal syndrome, Copy number variation – case report, Deafne, EYA1, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36183088; info:eu-repo/semantics/altIdentifier/wos/WOS:000862550200001; volume:48; issue:1; firstpage:1; lastpage:6; numberofpages:6; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/2434/950254Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139158376

الإتاحة: https://doi.org/10.1186/s13052-022-01369-5Test
https://hdl.handle.net/2434/950254Test

المؤلفون: Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wei Lu

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: EYA1 gene, SIX1 gene, branchio-oto-renal syndrome, whole-exome sequencing, hearing rehabilitation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.765433/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/0a8687c19f29430a9fc3ebaeb53b0adaTest