Publications by authors named "R Shomrat"

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Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women.
Karin Weiss, Avi Orr-Urtreger, Idit Kaplan Ber, Tova Naiman, Ruth Shomrat

Genet Med· December 2014

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A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
Lubov Blumkin, Sara Kivity, Dorit Lev, Sarit Cohen, Ruth Shomrat

J Neurol· December 2012

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Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia.
Sigal Tavor, Rachel Rothman, Tamar Golan, Nadia Voskoboinik, Ben-Zion Katz, Ruth Shomrat

Leuk Lymphoma· April 2011

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Large-scale population screening for spinal muscular atrophy: clinical implications.
Shay Ben-Shachar, Avi Orr-Urtreger, Eyal Bardugo, Ruth Shomrat, Yuval Yaron

Genet Med· February 2011

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Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
Zohar Landau, Aaron Hanukoglu, Joseph Sack, Nurit Goldstein, Naomi Weintrob, Ruth Shomrat

Clin Endocrinol (Oxf)· April 2010

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