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Ruth Shomrat

Tel Aviv Sourasky Medical Center

28

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554

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Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

2014 Genetics in Medicine
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Large-scale population screening for spinal muscular atrophy: Clinical implications

2011 Genetics in Medicine
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Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.

2010 Clinical Endocrinology
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The Predictive Value of TP53 FISH Analysis for Treatment Response and Survival in Cytogenetic Subgroups of AML Patients.

2009 Blood
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Cytogenetic analysis of 101 skull base tumors

2008 Head and Neck-journal for The Sciences and Specialties of The Head and Neck
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THE IMPORTANCE OF CYTOGENETIC ANALYSIS IN THE DIAGNOSIS AND TREATMENT OF BONE AND SOFT-TISSUE SARCOMAS

2002
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MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

2002 Human Mutation
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Citations (32)
Novel mutations in the emerin gene in Israeli families

2001 Human Mutation
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The Risk of Fragile X Premutation Expansion Is Lower in Carriers Detected by General Prenatal Screening Than in Carriers from Known Fragile X Families

2000 Genetic Testing
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Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

1999 Prenatal Diagnosis
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Citations (9)