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European Journal of Human Genetics, ISSN 1018-4813, 01/2012, Volume 20, Issue 1, pp. 27 - 32
Journal Article
Cancer Research, ISSN 0008-5472, 11/2005, Volume 65, Issue 21, pp. 10096 - 10103
This work describes an approach to characterize the clinical significance of genetic variants detected during the genetic testing of BRCA1 in patients from... 
Journal Article
Journal of Forensic Sciences, ISSN 0022-1198, 03/2004, Volume 49, Issue 2, pp. 250 - 254
Polymerase chain reaction (PCR)-based STR DNA typing systems are used extensively in the field of human identification. Under optimal PCR conditions, the... 
Allele dropout | FGA | vWA | Forensic science | Short tandem repeat | Single nucleotide polymorphism | DNA typing | Allelic Imbalance | Temperature | DNA Fingerprinting | Humans | Heterozygote | Polymorphism, Single Nucleotide | Tandem Repeat Sequences | DNA Primers | Sequence Analysis, DNA | Polymerase Chain Reaction - methods
Journal Article
Cancer Research, ISSN 0008-5472, 11/2005, Volume 65, Issue 21, pp. 10096 - 10103
This work describes an approach to characterize the clinical significance of genetic variants detected during the genetic testing of BRCA1 in patients from... 
BREAST-CANCER | HUMAN BRCA1 | SEQUENCE-ANALYSIS | POLYMORPHISMS | ONCOLOGY | COLORECTAL-CANCER | SUSCEPTIBILITY | FREQUENCY | RISK | FANCONI-ANEMIA | ASHKENAZIM | Haplotypes | Breast Neoplasms - genetics | Humans | Alleles | Polymorphism, Single Nucleotide | Genes, BRCA1 | Mutation
Journal Article
Cancer Research, ISSN 0008-5472, 01/2008, Volume 68, Issue 2, pp. 358 - 363
It has been proposed that multiple rare variants in numerous genes collectively account for a substantial proportion of multifactorial inherited predisposition... 
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 8/2003, Volume 48, Issue 8, pp. 399 - 403
Sequence analysis of cDNA from an asymptomatic patient belonging to a high-risk breast cancer family carrying the genetic variant BRCA1 IVS10-2A→C revealed... 
Splice | Intron | Breast cancer | mRNA | BRCA1 | Mutation | LifeSciences | MRNA | mutation | CELLS | intron | splice | GENETICS & HEREDITY | breast cancer | OVARIAN-CANCER | BREAST | Point Mutation | Genetic Predisposition to Disease | RNA Splice Sites | Sequence Analysis, RNA | Introns | Pedigree | Humans | Adult | Female | Male | Genes, BRCA1 | Sequence Analysis, DNA | Biochemistry | Genetic aspects | Gene mutations | Analysis
Journal Article
Journal of Forensic Sciences, ISSN 0022-1198, 03/2004, Volume 49, Issue 2, pp. 1 - 5
Polymerase chain reaction (PCR)-based STR DNA typing systems are used extensively in the field of human identification. Under optimal PCR conditions, the... 
Journal Article
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