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DNA Mutational AnalysisConcept Why?
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?Academic Article Why?
Lodato, MichaelPerson Why?
Applications of fluorescence for detecting rare sequence rearrangements in vivo.Academic Article Why?
Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.Academic Article Why?
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma.Academic Article Why?
Identifying cis-acting DNA elements within a control region.Academic Article Why?
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.Academic Article Why?
Sequence specificity of streptozotocin-induced mutations.Academic Article Why?
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.Academic Article Why?
Wide spetcrum mutational analysis of metastatic renal cell cancer: a retrospective next generation sequencing approach.Academic Article Why?
MSPrecise: A molecular diagnostic test for multiple sclerosis using next generation sequencing.Academic Article Why?
Comeau, Anne MariePerson Why?
A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene.Academic Article Why?
Activity-dependent transcription and disorders of human cognition.Academic Article Why?
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