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Tay-Sachs Screening in the Jewish Ashkenazi Population: DNA Testing Is the Preferred Procedure
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
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Further Delineation of the Clinical and Pathologic Features of HIKESHIRelated Hypomyelinating Leukodystrophy
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