[HTML][HTML] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

[HTML][HTML] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human …, 2013 - ncbi.nlm.nih.gov
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

[PDF][PDF] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Hum Genet, 2013 - Citeseer
Some individuals with a particular diseasecausing mutation or genotype fail to express most
if not all features of the disease in question, a phenomenon that is known as 'reduced (or …

[PDF][PDF] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - 2013 - cyberleninka.org
Some individuals with a particular diseasecausing mutation or genotype fail to express most
if not all features of the disease in question, a phenomenon that is known as 'reduced (or …

[引用][C] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human …, 2013 - oceanrep.geomar.de
Where genotype is not predictive of phenotype: towards an understanding of the molecular
basis of reduced penetrance in human inherited disease. - OceanRep GEOMAR - Helmholtz …

[PDF][PDF] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Hum Genet, 2013 - core.ac.uk
Some individuals with a particular diseasecausing mutation or genotype fail to express most
if not all features of the disease in question, a phenomenon that is known as 'reduced (or …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human …, 2013 - go.gale.com
Conclusions A holy grail of human medical genetics is to be able to deduce the likely clinical
phenotype of an individual from their genotype or genomic sequence. It was once perhaps …

[引用][C] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - 2013 - oparu.uni-ulm.de
LONG QT SYNDROME, DOMINANT RETINITIS-PIGMENTOSA, FACTOR-V-LEIDEN,
HEMOLYTIC-UREMIC SYNDROME, GENOME-WIDE ASSOCIATION, BREAST-CANCER …

[PDF][PDF] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Hum …, 2013 - klymkowsky.github.io
Some individuals with a particular diseasecausing mutation or genotype fail to express most
if not all features of the disease in question, a phenomenon that is known as 'reduced (or …

[PDF][PDF] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - 2013 - academia.edu
Some individuals with a particular diseasecausing mutation or genotype fail to express most
if not all features of the disease in question, a phenomenon that is known as 'reduced (or …