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1دورية أكاديمية
المؤلفون: Bennett O. V. Shum, Ilya Henner, Anita Cairns, Carel Pretorius, Urs Wilgen, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: next-generation DNA sequencing, newborn screening, spinal muscular atrophy, SMA, SMN1, analytical validation, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Bennett O. V. Shum, Letitia M. F. Sng, Rasa Ruseckaite, Ilya Henner, Natalie Twine, Denis C. Bauer, Urs Wilgen, Carel Pretorius, Paulette Barahona, Jacobus P. J. Ungerer, Glenn Bennett
المصدر: Prenatal Diagnosis. 43:109-116
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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3
المصدر: The Journal of Molecular Diagnostics. 19:602-612
مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Computer science, Computational biology, Validation Studies as Topic, Bioinformatics, Polymorphism, Single Nucleotide, Genome, Infant, Newborn, Diseases, DNA sequencing, Pathology and Forensic Medicine, Set (abstract data type), 03 medical and health sciences, Unknown Significance, Proficiency testing, Humans, Genome, Human, Infant, Newborn, Genetic Variation, High-Throughput Nucleotide Sequencing, Reference Standards, Test (assessment), Mutagenesis, Insertional, 030104 developmental biology, Multigene Family, Molecular Medicine, NIST, Detection rate, Gene Deletion