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UnknownEvaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.
Not available
S-EPMC6949293 | biostudies-literature
UnknownMuenke syndrome: Medical and surgical comorbidities and long-term management.
Not available
S-EPMC6959001 | biostudies-literature
UnknownCongenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Not available
S-EPMC8711298 | biostudies-literature
UnknownKnown pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Not available
S-EPMC11706325 | biostudies-literature
UnknownSPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.
Not available
S-EPMC5041579 | biostudies-literature
UnknownUtility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Not available
S-EPMC4506570 | biostudies-literature
UnknownMitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.
Not available
S-EPMC3234255 | biostudies-literature
UnknownMung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.
Not available
S-EPMC4110027 | biostudies-literature
UnknownDominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Not available
S-EPMC4375419 | biostudies-literature
UnknownIdentification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dube syndrome.
Not available
S-EPMC3075348 | biostudies-literature
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