Zobrazeno 1 - 10
of 449
pro vyhledávání: '"ARNOS, K."'
Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications.
Autor:
O'Brien A; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA., Aw WY; UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA., Tee HY; UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA., Naegeli KM; UNC Catalyst For Rare Diseases, UNC Eshelman School of Pharmacy, UNC Chapel Hill, Chapel Hill, NC, USA., Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., Arnos K; Emeritus, Department of Science, Technology, & Mathematics, Gallaudet University, Washington, DC, USA., Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, UNC Chapel Hill, Chapel Hill, NC, USA. pandya15@email.unc.edu.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Jan; Vol. 30 (1), pp. 7-12. Date of Electronic Publication: 2021 Apr 12.
Autor:
Feng, Haifeng1,2,3,4,5,6 (AUTHOR), Huang, Shasha1,2,3,4,5 (AUTHOR), Ma, Ying1,2,3,4,5 (AUTHOR), Yang, Jinyuan1,2,3,4,5 (AUTHOR), Chen, Yijin1,2,3,4,5 (AUTHOR), Wang, Guojian1,2,3,4,5 (AUTHOR), Han, Mingyu1,2,3,4,5 (AUTHOR), Kang, Dongyang1,2,3,4,5 (AUTHOR), Zhang, Xin1,2,3,4,5 (AUTHOR), Dai, Pu1,2,3,4,5 (AUTHOR) daipu301@vip.sina.com, Yuan, Yongyi1,2,3,4,5 (AUTHOR) yyymzh@163.com
Publikováno v:
Orphanet Journal of Rare Diseases. 9/13/2024, Vol. 19 Issue 1, p1-13. 13p.
Akademický článek
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Autor:
Domínguez-Ruiz, María1,2 (AUTHOR), Murillo-Cuesta, Silvia2,3,4 (AUTHOR), Contreras, Julio2,3,5 (AUTHOR), Cantero, Marta2,6 (AUTHOR), Garrido, Gema1,2,6 (AUTHOR), Martín-Bernardo, Belén2,3,4 (AUTHOR), Gómez-Rosas, Elena1 (AUTHOR), Fernández, Almudena2,6 (AUTHOR), del Castillo, Francisco J.1,2 (AUTHOR), Montoliu, Lluís2,6 (AUTHOR), Varela-Nieto, Isabel2,3,4 (AUTHOR), del Castillo, Ignacio1,2 (AUTHOR) ignacio.castillo@salud.madrid.org
Publikováno v:
BMC Genomics. 4/11/2024, Vol. 25 Issue 1, p1-14. 14p.
Autor:
Pryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., Griffith, A. J.
Publikováno v:
Journal of Medical Genetics; Feb2005, Vol. 42 Issue 2, p159-165, 7p, 1 Diagram, 3 Charts, 2 Graphs
Autor:
Jie Qin1 (AUTHOR), Dahai Wu1 (AUTHOR), Chenhai Zheng1 (AUTHOR), Shuai Yuan1 (AUTHOR), Xiaodong Feng2 (AUTHOR) ddddjqjq@163.com
Publikováno v:
Current Topics in Nutraceutical Research. Jan2024, Vol. 22 Issue 1, p252-257. 6p. 2 Charts, 4 Graphs.
Autor:
Yang Lu1, Yuanjia Hu1, Shengyue Wang1, Sijia Pan1, Kai An2,3, Tong Wang4, Yunfan He5, Chenghua Tian1 20071044@zcmu.edu.cn, Jianbo Lei3,6,7 jblei@hsc.pku.edu.cn
Publikováno v:
American Journal of Audiology. Dec2023, Vol. 32 Issue 4, p972-989. 18p.
Autor:
Nascimento Antunes, Larissa, Moreira Dias, Alex Marcel, Cetalle Schiavo, Beatriz, Mendes, Beatriz C. A., Romeo Bertola, Debora, Lezirovitz, Karina, Célia Mingroni-Netto, Regina
Publikováno v:
Frontiers in Genetics; 2024, p1-11, 11p
Autor:
Antunes, Larissa Nascimento, Dias, Alex Marcel Moreira, Schiavo, Beatriz Cetalle, Mendes, Beatriz C. A., Bertola, Debora Romeo, Lezirovitz, Karina, Mingroni-Netto, Regina Célia
Publikováno v:
Frontiers in Genetics; 2024, p1-11, 11p
Autor:
Liang, Shaoming1,2 (AUTHOR) lshaoming3@163.com, Li, Weihong3 (AUTHOR), Chen, Zhichao1 (AUTHOR), Yuan, Shimin4 (AUTHOR), Wang, Zhao1 (AUTHOR) luckbird100@163.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Aug2023, Vol. 11 Issue 8, p1-9. 9p.