Mostrando 1 - 5 Resultados de 5 Para Buscar 'power trio', tiempo de consulta: 0.05s Limitar resultados
  1. 1
    Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines
    “... powerful tool to identify exonic variants. Investigating causality of the sequence variants in human...”
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  2. 2
    Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.
    “... combined multi-ethnic GWAS of 2,771 CL/P and 611 CP case-parent trios. At the genome-wide significance...”
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  3. 3
    Development and validation of a multiplex 19 X-chromosomal short tandem repeats typing system for forensic purposes
    “...Abstract X-chromosome short tandem repeat (X-STR) markers are a powerful complementary system used...”
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    Identification and Characterization of Nine Novel X-Chromosomal Short Tandem Repeats on Xp21.1, Xq21.31, and Xq23 Regions
    “...The application of X-chromosomal short tandem repeats (X-STRs) has been recognized as a powerful...”
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  5. 5
    Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
    “..., we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West...”
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