Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel
Toledano-Alhadef, Hagit, Basel-Vanagaite, Lina, Magal, Nurit, Davidov, Bella, Ehrlich, Sophie, Drasinover, Valerie, Taub, Ellen, Halpern, Gabrielle J., Ginott, Nathan, Shohat, Mordechai
Published in American journal of human genetics (01.08.2001)
Published in American journal of human genetics (01.08.2001)
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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity
Baris, Hagit N., Barnes-Kedar, Inbal, Toledano, Helen, Halpern, Marisa, Hershkovitz, Dov, Lossos, Alexander, Lerer, Israela, Peretz, Tamar, Kariv, Revital, Cohen, Shlomi, Half, Elizabeth E., Magal, Nurit, Drasinover, Valerie, Wimmer, Katharina, Goldberg, Yael, Bercovich, Dani, Levi, Zohar
Published in Pediatric blood & cancer (01.03.2016)
Published in Pediatric blood & cancer (01.03.2016)
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Homozygous MED25 mutation implicated in eye–intellectual disability syndrome
Basel-Vanagaite, Lina, Smirin-Yosef, Pola, Essakow, Jenna Lee, Tzur, Shay, Lagovsky, Irina, Maya, Idit, Pasmanik-Chor, Metsada, Yeheskel, Adva, Konen, Osnat, Orenstein, Naama, Weisz Hubshman, Monika, Drasinover, Valerie, Magal, Nurit, Peretz Amit, Gaby, Zalzstein, Yael, Zeharia, Avraham, Shohat, Mordechai, Straussberg, Rachel, Monté, Didier, Salmon-Divon, Mali, Behar, Doron M.
Published in Human genetics (01.06.2015)
Published in Human genetics (01.06.2015)
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Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
Basel-Vanagaite, Lina, Muncher, Liora, Straussberg, Rachel, Pasmanik-Chor, Metsada, Yahav, Michal, Rainshtein, Limor, Walsh, Christopher A., Magal, Nurit, Taub, Ellen, Drasinover, Valerie, Shalev, Hanna, Attia, Revital, Rechavi, Gideon, Simon, Amos J., Shohat, Mordechai
Published in Annals of neurology (01.08.2006)
Published in Annals of neurology (01.08.2006)
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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity: CMMRD, Founder Mutations, and Consanguinity in Israel
Baris, Hagit N., Barnes-Kedar, Inbal, Toledano, Helen, Halpern, Marisa, Hershkovitz, Dov, Lossos, Alexander, Lerer, Israela, Peretz, Tamar, Kariv, Revital, Cohen, Shlomi, Half, Elizabeth E., Magal, Nurit, Drasinover, Valerie, Wimmer, Katharina, Goldberg, Yael, Bercovich, Dani, Levi, Zohar
Published in Pediatric blood & cancer (01.03.2016)
Published in Pediatric blood & cancer (01.03.2016)
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Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
BASEL -VANAGAITE, Lina, TAUB, Ellen, HALPERN, Gabrielle J, DRASINOVER, Valerie, MAGAL, Nurit, DAVIDOV, Bella, ZLOTOGORA, Joël, SHOHAT, Mordechai
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Journal Article
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel
Basel-Vanagaite, Lina, Taub, Ellen, Drasinover, Valerie, Magal, Nurit, Brudner, Alona, Zlotogora, Joel, Shohat, Mordechai
Published in Genetic testing (01.03.2008)
Published in Genetic testing (01.03.2008)
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Amniotic trisomy 11 mosaicism-is it a benign finding?
Basel-Vanagaite, Lina, Davidov, Bella, Friedman, Jane, Yeshaya, Yosefa, Magal, Nurit, Drasinover, Valerie, Shohat, Mordechai
Published in Prenatal diagnosis (01.09.2006)
Published in Prenatal diagnosis (01.09.2006)
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Journal Article
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel
Basel-Vanagaite, Lina, Taub, Ellen, Halpern, Gabrielle J, Drasinover, Valerie, Magal, Nurit, Davidov, Bella, Zlotogora, Joel, Shohat, Mordechai
Published in European journal of human genetics : EJHG (01.02.2007)
Published in European journal of human genetics : EJHG (01.02.2007)
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Journal Article
Increased transmission of intermediate alleles of the FMR1 gene compared with normal alleles among female heterozygotes
Drasinover, V, Ehrlich, S, Magal, N, Taub, E, Libman, V, Shohat, T, Halpern, G J, Shohat, M
Published in American journal of medical genetics (17.07.2000)
Published in American journal of medical genetics (17.07.2000)
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