The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis
Peleg, Leah, Karpati, Mazal, Bronstein, Silvia, Berkenstadt, Michal, Frydman, Moshe, Yonath, Hagith, Pras, Elon
Published in Journal of medical screening (01.01.2011)
Published in Journal of medical screening (01.01.2011)
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Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis
FRISCH, Amos, COLOMBO, Roberto, MICHAELOVSKY, Elena, KARPATI, Mazal, GOLDMAN, Boleslaw, PELEG, Leah
Published in Human genetics (01.03.2004)
Published in Human genetics (01.03.2004)
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Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update
Reish, Orit, Shohat, Mordechai, Magal, Nurit, Pesso, Rachel, Borochowitz, Zvi U, Adir, Vardit, Karpati, Mazal, Shimshoni, Daphne Chapman
Published in Genetics in medicine (01.05.2009)
Published in Genetics in medicine (01.05.2009)
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Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel
Reish, Orit, Borochowitz, Zvi U., Adir, Vardit, Shohat, Mordechai, Karpati, Mazal, Shtorch, Atalia, Orr-Urtreger, Avi, Yaron, Yuval, Shalev, Stavit, Fares, Fuad, Gershoni-Baruch, Ruth, Falik-Zaccai, Tzipora C., Chapman-Shimshoni, Daphne
Published in Genetics in medicine (01.02.2009)
Published in Genetics in medicine (01.02.2009)
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Tay-Sachs disease and HEXA mutations among Moroccan Jews
Kaufman, Michal, Grinshpun-Cohen, Julia, Karpati, Mazal, Peleg, Lea, Goldman, Boleslaw, Akstein, Edna, Adam, Avinoam, Navon, Ruth
Published in Human mutation (1997)
Published in Human mutation (1997)
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Tay-Sachs disease andHEXA mutations among Moroccan Jews
Kaufman, Michal, Grinshpun-Cohen, Julia, Karpati, Mazal, Peleg, Lea, Goldman, Boleslaw, Akstein, Edna, Adam, Avinoam, Navon, Ruth
Published in Human mutation (1997)
Published in Human mutation (1997)
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