Dr. Yun Li

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  • 2012 | Journal Article | Research Paper
    ​ ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​
    von Ameln, S.; Wang, G.; Boulouiz, R.; Rutherford, M. A.; Smith, G. M.; Li, Y.   & Pogoda, H.-M. et al.​ (2012) 
    American journal of human genetics, 91(5) pp. 919​-927​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.09.002 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss​
    Li, Y. ; Pohl, E.; Boulouiz, R.; Schraders, M.; Nürnberg, G.; Charif, M. & Admiraal, R. J. C. et al.​ (2010) 
    American journal of human genetics, 86(3) pp. 479​-484​.​ DOI: https://doi.org/10.1016/j.ajhg.2010.02.003 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Letter Note
    ​ ​First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​
    Li, Y. ; Pabst, S.; Kubisch, C.; Grohe, C. & Wollnik, B. ​ (2010) 
    Thorax, 65(10) pp. 939​-940​.​ DOI: https://doi.org/10.1136/thx.2010.138743 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Letter Note
    ​ ​A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​
    Boulouiz, R.; Li, Y. ; Soualhine, H.; Abidi, O.; Chafik, A.; Nürnberg, G. & Becker, C. et al.​ (2008) 
    American Journal of Medical Genetics, 146A(23) pp. 3086​-3089​.​ DOI: https://doi.org/10.1002/ajmg.a.32525 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​
    Boulouiz, R.; Li, Y. ; Abidi, O.; Bolz, H. J.; Chafik, A.; Kubisch, C. & Rouba, H. et al.​ (2007) 
    Molecular vision, 13(204-08) pp. 1862​-1865​.​
    ​Details  PMID  PMC  WoS 

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https://publications.goettingen-research-online.de URI: /cris/rp/rp02396
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