Výsledky vyhledávání - Chervinsky, Elena
- Zobrazuji výsledky 1 - 7 z 7
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A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy Autor Cohen, Ben, Chervinsky, Elena, Jabaly-Habib, Haneen, Shalev, Stavit A., Briscoe, Daniel, Ben-Yosef, Tamar
Vydáno 2012Text -
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 Autor Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit
Vydáno 2011Text -
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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss Autor Danial-Farran, Nada, Chervinsky, Elena, Nadar-Ponniah, Prathamesh T, Cohen Barak, Eran, Taiber, Shahar, Khayat, Morad, Avraham, Karen B., Shalev, Stavit A.
Vydáno 2020Text -
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Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1 Autor Rizel, Leah, Safieh, Christine, Shalev, Stavit A., Mezer, Eedy, Jabaly-Habib, Haneen, Ben-Neriah, Ziva, Chervinsky, Elena, Briscoe, Daniel, Ben-Yosef, Tamar
Vydáno 2011Text -
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Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy Autor Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen
Vydáno 2019Text -
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Genetics of hearing loss in the Arab population of Northern Israel Autor Danial-Farran, Nada, Brownstein, Zippora, Gulsuner, Suleyman, Tammer, Luna, Khayat, Morad, Aleme, Ola, Chervinsky, Elena, Zoubi, Olfat Aboleile, Walsh, Tom, Ast, Gil, King, Mary-Claire, Avraham, Karen B., Shalev, Stavit A.
Vydáno 2018Text