Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
Erken, H., Yariz, K.O., Duman, D., Kaya, C.T., Sayin, T., Heper, A.O., Tekin, M.
Published in British journal of dermatology (1951) (01.10.2011)
Published in British journal of dermatology (1951) (01.10.2011)
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Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy
Ramser, Juliane, Ahearn, Mary Ellen, Lenski, Claus, Yariz, Kemal O., Hellebrand, Heide, von Rhein, Michael, Clark, Robin D., Schmutzler, Rita K., Lichtner, Peter, Hoffman, Eric P., Meindl, Alfons, Baumbach-Reardon, Lisa
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation
Yariz, K.O., Sakalar, Y.B., Jin, X., Hertz, J., Sener, E.F., Akay, H., Özbek, M.N., Farooq, A., Goldberg, J., Tekin, M.
Published in Clinical genetics (01.02.2015)
Published in Clinical genetics (01.02.2015)
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Journal Article
A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss
Yariz, KO, Walsh, T, Akay, H, Duman, D, Akkaynak, AC, King, M-C, Tekin, M
Published in Clinical genetics (01.03.2012)
Published in Clinical genetics (01.03.2012)
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X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping
Dressman, Devin, Ahearn, Mary Ellen, Yariz, Kemal O, Basterrecha, Hugo, Martínez, Francisco, Palau, Francesc, Barmada, M Michael, Clark, Robin Dawn, Meindl, Alfons, Wirth, Brunhilde, Hoffman, Eric P, Baumbach-Reardon, Lisa
Published in Genetics in medicine (01.01.2007)
Published in Genetics in medicine (01.01.2007)
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