نتائج البحث - Andrea Sprecher
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1
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort حسب Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Lüdger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup
منشور في 2016Artigo -
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies حسب Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Phenotype
ABCA4
Allele
Amyotrophic lateral sclerosis
Bioinformatics
C9orf72
Candidate gene
DNA sequencing
Disease
Exon
Genetic heterogeneity
Medicine
Mutation
Neurodegeneration
Pathology
Penetrance
Retinitis pigmentosa
SOD1
Sanger sequencing
TARDBP
Trinucleotide repeat expansion