Kemal O. Yariz, Ph.D.
Affiliations: | 2008 | University of Miami, Coral Gables, FL |
Area:
Molecular Biology, GeneticsGoogle:
"Kemal Yariz"Parents
Sign in to add mentor| Lisa L. Baumbach-Reardon | grad student | 2008 | University of Miami | |
| (The chronicles of X-linked Spinal Muscular Atrophy: The linkage, the gene and the SMN complex.) | ||||
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Publications
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| Bademci G, Lasisi A, Yariz KO, et al. (2015) Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. Bmc Medical Genetics. 16: 9 |
| Yariz KO, Sakalar YB, Jin X, et al. (2015) A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clinical Genetics. 87: 192-5 |
| Falcone M, Yariz KO, Ross DB, et al. (2013) An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability. Plos One. 8: e82810 |
| Yariz KO, Duman D, Seco CZ, et al. (2012) Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. American Journal of Human Genetics. 91: 872-82 |
| Yariz KO, Walsh T, Akay H, et al. (2012) A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clinical Genetics. 81: 289-93 |
| Yariz KO, Walsh T, Uzak A, et al. (2011) Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertility and Sterility. 96: e125-30 |
| Erken H, Yariz KO, Duman D, et al. (2011) Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation British Journal of Dermatology. 165: 917-921 |
| Ramser J, Ahearn ME, Lenski C, et al. (2008) Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. American Journal of Human Genetics. 82: 188-93 |
| Guevara-Aguirre J, Rosenbloom AL, Guevara-Aguirre M, et al. (2007) 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 |
| Dressman D, Ahearn ME, Yariz KO, et al. (2007) 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 |