„Mutation Testing“
Suchergebnisse
283 Treffer
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Multiplex testing for Factor II and Factor V mutations in thrombophilia: technical verification and clinical validation of the cobas® Factor II and Factor V test
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Genetic Testing for Thrombophilia Mutations
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Detection of known haemophilia B mutations and carrier testing by microarray
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Genetic Screening for von Hippel-Lindau Gene Mutations in Non-syndromic Pheochromocytoma: Low Prevalence and False-positives or Misdiagnosis Indicate a Need for Caution
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Quality in Molecular Biology Testing for Inherited Thrombophilia Disorders
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Targeted next generation sequencing approach in patients referred for Silver-Russell Syndrome testing increases the mutation detection rate and provides decisive information for clinical management
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One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR
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European Conference on Software Engineering Education – ECSEE 2016, 30th June and 1st July 2016, Seeon Monastery
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Molecular Genetic Testing of Hemophilia A
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Genetic Testing for von Willebrand Disease: The Canadian Experience
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Genetic testing and interpretive complexity: a BRCA1 gene mutation example
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TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia
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BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
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Usefulness of SNPs as Supplementary Markers in a Paternity Case with 3 Genetic Incompatibilities at Autosomal and Y Chromosomal Loci
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Embracing Model Transformations in Requirements Specification – A Step Towards Automated Requirements Engineering
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Mutation Testing for the New Century
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Non-invasive urine testing of EGFR activating mutation and T790M resistance mutation in non-small cell lung cancer
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Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic
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An audit of treatment focussed BRCA1/2 mutation testing at an integrated Familial Cancer Clinic
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Commentary on the role of treatment-related HIV compensatory mutations on increasing virulence: new discoveries twenty years since the clinical testing of protease inhibitors to block HIV-1 replication