检索结果 - Chervinsky, Elena

Diagnostic challenges of Wilson’s disease presenting as acute pancreatitis, cholangitis, and jaundice 由 Nussinson, Elchanan, Shahbari, Azmi, Shibli, Fahmi, Chervinsky, Elena, Trougouboff, Philippe, Markel, Arie

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A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy 由 Cohen, Ben, Chervinsky, Elena, Jabaly-Habib, Haneen, Shalev, Stavit A., Briscoe, Daniel, Ben-Yosef, Tamar

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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 由 Banka, Siddharth, Chervinsky, Elena, Newman, William G, Crow, Yanick J, Yeganeh, Shay, Yacobovich, Joanne, Donnai, Dian, Shalev, Stavit

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Homozygote loss-of-function variants in the human COCH gene underlie hearing loss 由 Danial-Farran, Nada, Chervinsky, Elena, Nadar-Ponniah, Prathamesh T, Cohen Barak, Eran, Taiber, Shahar, Khayat, Morad, Avraham, Karen B., Shalev, Stavit A.

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Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1 由 Rizel, Leah, Safieh, Christine, Shalev, Stavit A., Mezer, Eedy, Jabaly-Habib, Haneen, Ben-Neriah, Ziva, Chervinsky, Elena, Briscoe, Daniel, Ben-Yosef, Tamar

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Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy 由 Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen

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Genetics of hearing loss in the Arab population of Northern Israel 由 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.

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