Large scale population screening for Duchenne muscular dystrophy—Predictable and unpredictable challenges
Cohen, Gal, Shtorch‐Asor, Atalia, Ben‐Shachar, Shay, Goldfarb‐Yaacobi, Racheli, Kaiser, Meirav, Rosenfeld, Revital, Vinovezky, Mika, Irge, Dana, Furman, Yael, Reiss, Dafni, Litz‐Philipsborn, Shira, Sukenik‐Halevy, Rivka
Published in Prenatal diagnosis (01.08.2022)
Published in Prenatal diagnosis (01.08.2022)
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Hyper IgE Syndrome in an Isolated Population in Israel
Lachover-Roth, Idit, Lagovsky, Irina, Shtorch-Asor, Atalia, Confino-Cohen, Ronit, Reinstein, Eyal, Garty, Ben-Zion
Published in Frontiers in immunology (04.02.2022)
Published in Frontiers in immunology (04.02.2022)
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A founder mutation in TCTN2 causes Meckel-Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin
Litz Philipsborn, Shira, Hartmajer, Shulamit, Shtorch Asor, Atalia, Vinovezky, Mika, Regev, Miriam, Singer, Amihood, Reinstein, Eyal
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
Three peaks in the polymerase chain reaction fragile X analysis
Sharony, Reuven, Shtorch, Atalia, Amiel, Aliza, Guetta, Esther, Peleg, Leah, Pras, Elon, Ries-Levavi, Liat
Published in Journal of medical screening (01.09.2012)
Published in Journal of medical screening (01.09.2012)
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Journal Article
Large scale population screening for Duchenne muscular dystrophy – Preliminary results
Cohen, Gal, Shtorch-Asor, Atalia, Goldfarb-Yaacobi, Racheli, Kaiser, Meirav, Rosenfeld, Revital, Halevi-Sukenik, Rivka
Published in American journal of obstetrics and gynecology (01.01.2022)
Published in American journal of obstetrics and gynecology (01.01.2022)
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Journal Article
A founder mutation in TCTN2 causes Meckel‐Gruber syndrome type 8 among Jews of Ethiopian and Yemenite origin
Litz Philipsborn, Shira, Hartmajer, Shulamit, Shtorch Asor, Atalia, Vinovezky, Mika, Regev, Miriam, Singer, Amihood, Reinstein, Eyal
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
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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165: Clinically significant genomic alterations are enhanced in placentas from pregnancies with fetal growth restriction (FGR)–preliminary results
Biron-Shental, Tal, Sukenik-Halevy, Rivka, Bonin, Michael, Shtorch-Asor, Atalia, Kaiser, Meirav, Amiel, Aliza
Published in American journal of obstetrics and gynecology (2014)
Published in American journal of obstetrics and gynecology (2014)
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Journal Article
Molecular analysis of an extended Palestinian family from Israel with monilethrix
Oetting, W S, Fryer, J P, Wyman, Z, Shtorch, A, Cordoba, M, Lazarov, A, Reish, O
Published in Genetics in medicine (01.03.1999)
Published in Genetics in medicine (01.03.1999)
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