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المؤلفون: Guy Van Camp, Jean-Pierre Renard, Paul Coucke, Jan Hellemans, Dieter Deforce, Jo Vandesompele, Steve Lefever, Joachim De Schrijver, Wim Van Criekinge, Hendrik Van de Voorde, Filip Pattyn, Sarah De Keulenaer, Daisy Flamez, Mohammad Amin Tabatabaiefar, Bieke Scharlaken, Filip Van Nieuwerburgh, Sofie Bekaert
المصدر: BMC MEDICAL GENOMICS
BMC Medical Genomics, Vol 5, Iss 1, p 17 (2012)
BMC Medical Genomicsمصطلحات موضوعية: lcsh:Internal medicine, lcsh:QH426-470, Hearing loss, Genetic diagnostics, Biology, Deafness, Congenital hearing loss, Polymerase Chain Reaction, PCR based enrichment, Connexins, symbols.namesake, Next generation sequencing, Genetics, medicine, OTOF, otorhinolaryngologic diseases, Humans, Genetics(clinical), lcsh:RC31-1245, Genetics (clinical), Sanger sequencing, MUTATIONS, High-Throughput Nucleotide Sequencing, Biology and Life Sciences, Amplicon, IMPAIRMENT, Molecular diagnostics, Human genetics, Connexin 26, lcsh:Genetics, Molecular Diagnostic Techniques, Mutation (genetic algorithm), symbols, Human medicine, medicine.symptom, Research Article
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fa53bcb0817090c655f418eed5771cTest
https://biblio.ugent.be/publication/3070495/file/3070512Test -
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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: Wim Van Criekinge, Jo Vandesompele, Paul Coucke, Jan Hellemans, Filip Pattyn, Filip Van Nieuwerburgh, Dieter Deforce, Sofie Bekaert, Steve Lefever, Joachim De Schrijver, Nick Sabbe, Kim De Leeneer
المصدر: BMC Bioinformatics, Vol 11, Iss 1, p 269 (2010)
BMC Bioinformatics
BMC BIOINFORMATICSمصطلحات موضوعية: Relational database, Molecular Sequence Data, Biology, computer.software_genre, lcsh:Computer applications to medicine. Medical informatics, Polymerase Chain Reaction, Biochemistry, Set (abstract data type), User-Computer Interface, Software, Structural Biology, Databases, Genetic, lcsh:QH301-705.5, Molecular Biology, computer.programming_language, Database, Base Sequence, business.industry, Applied Mathematics, Biology and Life Sciences, Sequence Analysis, DNA, Modular design, Amplicon, Pipeline (software), Computer Science Applications, GENOME, ALIGNMENT, Identification (information), lcsh:Biology (General), lcsh:R858-859.7, Perl, business, computer, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ec56ceddca2df4bfd77d03d06771e6Test