Výsledky vyhledávání - "MendozaLondono, Roberto"

Periodical

Spondyloepiphyseal dysplasia, Maroteaux type pseudoMorquio syndrome type 2, and parastremmatic dysplasia are caused by TRPV4mutationsShiro Ikegawa and Andrea SupertiFurga are equally contributed to this work.How to cite this article: Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, MendozaLondono R, Silengo M, SchmidtRimpler M, Spranger J, Zabel B, Ikegawa S, SupertiFurga A. 2010. Spondyloepiphyseal dysplasia, Maroteaux type pseudoMorquio syndrome type 2 and parastremmatic dysplasia are caused by TRPV4mutations. Am J Med Genet Part A 152A:1443–1449.

Autor: Nishimura, Gen, Dai, Jin, Lausch, Ekkehart, Unger, Sheila, Megarbané, André, Kitoh, Hiroshi, Kim, Ok Hwa, Cho, TaeJoon, Bedeschi, Francesca, Benedicenti, Francesco, MendozaLondono, Roberto, Silengo, Margherita, SchmidtRimpler, Maren, Spranger, Jurgen, Zabel, Bernhard, Ikegawa, Shiro, SupertiFurga, Andrea

Publikováno v: American Journal of Medical Genetics. Part A; June 2010, Vol. 152 Issue: 6 p1443-1449, 7p

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Periodical

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

Autor: Stockley, Tracy L., MendozaLondono, Roberto, Propst, Evan J., Sodhi, Sandi, Dupuis, Lucie, Papsin, Blake C.

Publikováno v: American Journal of Medical Genetics. Part A; March 2009, Vol. 149 Issue: 3 p322-327, 6p

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