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| 1 | Homozy- gous mutations in the 15-hydroxyprostaglandin dehydrogen- ase gene in patients with primary hypertrophic osteoar- thropathy 显示文摘 | Yiiksel-Konuk B Sirmaci A Ayten GE | 2009 | Rheumatol Int2009，30，： | 1 |
| 2 | MASP1mutations in patients with facial,umbilical,coccygeal,and auditory findings of Carnevale,Malpuech,OSA,and Michels syndromes显示文摘 | SIRMACI A WALSH T AKAY H | 2010 | Am J Hum Genet2010，87，： | 1 |
| 3 | MASP1 mutations in patients with facial, umbilical, eoccygeal, and auditory findings of carnevale, malpuech, OSA, and Michels syndromes显示文摘 | Sirmaci A Walsh T Akay H | 2010 | Am J Hum Genet2010，87，5： | 1 |
| 4 | Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear a- genesis, microtia, and microdontia显示文摘 | Tekin M Hismi BO Fitoz S Ozdag H Cengiz FB Sirmaci A As- lan I Inceoglu B Ytiksel-Konuk EB Yilmaz ST Yasun O Akar N | 2007 | Am J Hum Genet2007，80，2： | 1 |
| 5 | MASP1 mutations in patients with facial,umbilical,coccy-geal,and auditory findings of Carnevale,Malpuech,OSA,and Mi-chels syndromes Am J Hum Genet显示文摘 | Sirmaci A Walsh T Akay H Spiliopoulos M Sakalar YB Hasanefendio?lu-Bayrak A Duman D Farooq A King MC Tekin M | 2010 | 2010，，： | 1 |
| 6 | MASP1mutations in patients with facial,umbilical,coccygeal,and auditory findings of Carnevale,Malpuech,OSA,and Michels syndromes显示文摘 | SIRMACI A WALSH T AKAY H | 2010 | Am J Hum Genet2010，87，： | 1 |
| 7 | Mutation of the ATP-gated P2X (2) receptor leads to progressive hearing loss and increased suscep-tibility to noise显示文摘 | Yan D Zhu Y Walsh T Xie D Yuan H Sirmaci A Fujika-wa T Wong AC Loh TL Du L Grati M Vlajkovic SM Blanton S Ryan AF Chen ZY Thorne PR Kachar B Tekin M Zhao HB Housley GD King MC Liu XZ | | 0，，： | 1 |
| 8 | Mutations in OTOGL,encoding the in-ner ear protein otogelin-like,cause moderate sensorineural hear-ing loss显示文摘 | Yariz KO Duman D Seco CZ Dallman J Huang M Peters TA Sirmaci A Lu N Schraders M Skromne I Oostrik J Di-az-Horta O Young JI Tokgoz-Yilmaz S Konukseven O Shahin H Hetterschijt L Kanaan M Oonk AM Edwards YJ Li H Ata-lay S Blanton S Desmidt AA Liu XZ Pennings | | 0，，： | 1 |
| 9 | MASP1 mutations in patients with {acial, umbilical, coceygeal, and auditory find- ings of Carnevale, Malpueeh, OSA, and Michels syndrom 显示文摘 | Sirmaci A Walsh T Akay H | 2010 | AmJ HumGenet2010，87，： | 1 |
| 10 | Challenges in whole exome sequencing an example from hereditary deafness显示文摘 | Sirmaci A Edwards YJ Akay H | 2012 | PLoS One2012，，： | 1 |
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