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Revue neurologique, ISSN 0035-3787, 09/2020, Volume 176, pp. S31 - S31
Les stratégies actuelles du diagnostic moléculaire des dystrophinopathies ont considérablement évolué. Dans la majorité des cas, il est possible de corréler la... 
MLPA | Dystrophinopathies | PCR Multiplex
Journal Article
Haematologica, ISSN 0390-6078, 01/2012, Volume 97, Issue 1, pp. 47 - 55
Journal Article
European journal of human genetics : EJHG, ISSN 1476-5438, 01/2012, Volume 20, Issue 7, pp. 762 - 768
The analytical algorithm of Lynch syndrome (LS) is increasingly complex. BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a... 
cost-effectiveness | Lyncg Syndrome | MLH1 promoter hypermethylation | MS-MLPA | BRAF V600E mutation | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | MutL Protein Homolog 1 | Microsatellite Instability | Humans | Male | Loss of Heterozygosity | Genetic Testing - methods | Young Adult | DNA Methylation | Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis | Sensitivity and Specificity | Germ-Line Mutation | Adult | Nuclear Proteins - genetics | Proto-Oncogene Proteins B-raf - metabolism | Promoter Regions, Genetic | Colorectal Neoplasms, Hereditary Nonpolyposis - genetics | Nuclear Proteins - metabolism | Algorithms | Pedigree | Proto-Oncogene Proteins B-raf - genetics | Cost-Benefit Analysis | Adaptor Proteins, Signal Transducing - genetics | Genetic Testing - economics | Mutation | Sequence Analysis, DNA - economics | Adaptor Proteins, Signal Transducing - metabolism | Sequence Analysis, DNA - methods | MLH1 protein | Colorectal carcinoma | Colorectal cancer | MSH2 protein | Family medical history | Microsatellite instability | Gene expression | Proteins | MSH6 protein | Genetic counseling | Mismatch repair | DNA methylation | Genetics | Protein expression | Genetic testing | Cost analysis | Methylation | Chromosomes | Deoxyribonucleic acid--DNA | Tumors | Index Medicus | Metilació | Càncer colorectal | Algorismes
Journal Article
Antonie van Leeuwenhoek, ISSN 0003-6072, 1/2015, Volume 107, Issue 1, pp. 119 - 132
Journal Article
Oncotarget, ISSN 1949-2553, 09/2018, Volume 9, Issue 72, pp. 33648 - 33655
Molecular analysis of ( # and ( #600185) genes is essential for familial breast and ovarian cancer prevention and treatment. An efficient, rapid,... 
BRCA genes | CNV | NGS | MLPA | MAQ
Journal Article
Journal of thoracic oncology, ISSN 1556-0864, 04/2015, Volume 10, Issue 4, pp. 565 - 576
Journal Article
Journal Article