Shahor I - Search Results

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Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R. Mory A, et al. Among authors: shahor i. Pediatr Neurol. 2014 Apr;50(4):421-6. doi: 10.1016/j.pediatrneurol.2014.01.006. Epub 2014 Jan 7. Pediatr Neurol. 2014. PMID: 24630287

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. Mory A, et al. Among authors: shahor i. Am J Hum Genet. 2012 Apr 6;90(4):708-14. doi: 10.1016/j.ajhg.2012.03.005. Am J Hum Genet. 2012. PMID: 22482807 Free PMC article.

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