Year |
Citation |
Score |
2015 |
Bademci G, Lasisi A, Yariz KO, Montenegro P, Menendez I, Vinueza R, Paredes R, Moreta G, Subasioglu A, Blanton S, Fitoz S, Incesulu A, Sennaroglu L, Tekin M. Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. Bmc Medical Genetics. 16: 9. PMID 25928534 DOI: 10.1186/S12881-015-0149-2 |
0.487 |
|
2015 |
Yariz KO, Sakalar YB, Jin X, Hertz J, Sener EF, Akay H, Özbek MN, Farooq A, Goldberg J, Tekin M. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clinical Genetics. 87: 192-5. PMID 24702266 DOI: 10.1111/Cge.12374 |
0.334 |
|
2013 |
Falcone M, Yariz KO, Ross DB, Foster J, Menendez I, Tekin M. An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. Plos One. 8: e82810. PMID 24324832 DOI: 10.1371/Journal.Pone.0082810 |
0.402 |
|
2012 |
Yariz KO, Duman D, Seco CZ, Dallman J, Huang M, Peters TA, Sirmaci A, Lu N, Schraders M, Skromne I, Oostrik J, Diaz-Horta O, Young JI, Tokgoz-Yilmaz S, Konukseven O, et al. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. American Journal of Human Genetics. 91: 872-82. PMID 23122586 DOI: 10.1016/J.Ajhg.2012.09.011 |
0.483 |
|
2012 |
Yariz KO, Walsh T, Akay H, Duman D, Akkaynak AC, King MC, Tekin M. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clinical Genetics. 81: 289-93. PMID 21348867 DOI: 10.1111/J.1399-0004.2011.01654.X |
0.514 |
|
2011 |
Yariz KO, Walsh T, Uzak A, Spiliopoulos M, Duman D, Onalan G, King MC, Tekin M. Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertility and Sterility. 96: e125-30. PMID 21683950 DOI: 10.1016/J.Fertnstert.2011.05.057 |
0.408 |
|
2011 |
Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation British Journal of Dermatology. 165: 917-921. PMID 21668431 DOI: 10.1111/J.1365-2133.2011.10455.X |
0.524 |
|
2008 |
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. 82: 188-93. PMID 18179898 DOI: 10.1016/J.Ajhg.2007.09.009 |
0.516 |
|
2007 |
Guevara-Aguirre J, Rosenbloom AL, Guevara-Aguirre M, Yariz K, Saavedra J, Baumbach L, Shuster J. Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature. Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 17: 261-4. PMID 17350302 DOI: 10.1016/J.Ghir.2007.01.016 |
0.322 |
|
2007 |
Dressman D, Ahearn ME, Yariz KO, Basterrecha H, Martínez F, Palau F, Barmada MM, Clark RD, Meindl A, Wirth B, Hoffman EP, Baumbach-Reardon L. X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 52-60. PMID 17224690 DOI: 10.1097/Gim.0B013E31802D8353 |
0.508 |
|
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