Publications by authors named "Ruth 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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Cytogenetic analysis of 101 skull base tumors.
Ziv Gil, Avi Orr-Urtreger, Nadia Voskoboinik, Leonor Trejo-Leider, Ruth Shomrat

Head Neck· May 2008

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Cytogenetic analysis of sinonasal carcinomas.
Ziv Gil, Avi Orr-Urtreger, Nadia Voskoboinik, Leonor Trejo-Leider, Sergey Spektor, Ruth Shomrat

Otolaryngol Head Neck Surg· April 2006

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Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy.
Mira Malcov, Tamar Schwartz, Nava Mei-Raz, Dalit Ben Yosef, Ami Amit, Ruth Shomrat

Fetal Diagn Ther· September 2004

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Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews.
Ofer Lehavi, Orna Aizenstein, Dani Bercovich, Dina Pavzner, Ruth Shomrat

Genet Test· April 2004

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MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman

Hum Mutat· October 2002

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Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations.
Nancy Gavert, Yuval Yaron, Tova Naiman, Dani Bercovich, Paul Rozen, Ruth Shomrat

Hum Mutat· June 2002

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Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect.
Paul Rozen, Tova Naiman, Hana Strul, Philipp Taussky, Nataly Karminsky, Ruth Shomrat

Cancer· May 2002

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Rett syndrome: clinical manifestations in males with MECP2 mutations.
Bruria Ben Zeev, Yuval Yaron, N Carolyn Schanen, Haika Wolf, Nathan Brandt, Ruth Shomrat

J Child Neurol· January 2002

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