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المؤلفون: Hal Dietz, Ronald V. Lacro, Julie De Backer, Bart Loeys, Machteld Baetens, Joachim De Schrijver, Hendrik Van de Voorde, B Menten, Kim De Leeneer, Anne De Paepe, Paul Coucke, Jan Hellemans, Lut Van Laer, Wim Van Criekinge, Marjolijn Renard
المصدر: Human mutation
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, Pilot Projects, Biology, Polymerase Chain Reaction, DNA sequencing, Marfan Syndrome, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Multiplex polymerase chain reaction, Genetics, Humans, Missense mutation, Multiplex, Multiplex ligation-dependent probe amplification, Genetics (clinical), DNA Primers, 030304 developmental biology, Sanger sequencing, Loeys-Dietz Syndrome, 0303 health sciences, Polymorphism, Genetic, Massive parallel sequencing, Base Sequence, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Molecular Diagnostic Techniques, Mutation, Mutation (genetic algorithm), symbols, Human medicine, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a68d871619bd6f4848a07c3ccfc4b646Test
https://hdl.handle.net/10067/920890151162165141Test -
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المؤلفون: Anne De Paepe, Jan Hellemans, Joachim De Schrijver, Wim Van Criekinge, Kathleen Claes, Bruce Poppe, Kim De Leeneer, Machteld Baetens, Paul Coucke
المساهمون: Center for Medical Genetics [Ghent], Ghent University Hospital, Laboratory for Bioinformatics and Computational Genomics, Ghent University, Universiteit Gent = Ghent University [Belgium] (UGENT)
المصدر: Human Mutation
Human Mutation, Wiley, 2011, 32 (3), pp.335. ⟨10.1002/humu.21428⟩مصطلحات موضوعية: Cancer genome sequencing, DNA Mutational Analysis, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, Genome, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Multiplex, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Illumina dye sequencing, Exome sequencing, 030304 developmental biology, Genetic testing, BRCA2 Protein, 0303 health sciences, Massive parallel sequencing, medicine.diagnostic_test, Base Sequence, BRCA1 Protein, Life Sciences, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, 3. Good health, High-Throughput Screening Assays, 030220 oncology & carcinogenesis, Pyrosequencing, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc1126202ac2eb8441e2988d9017cb4Test
https://pubmed.ncbi.nlm.nih.gov/21305653Test