نتایج جستجو برای: multiplex ligation dependentprobe amplification
تعداد نتایج: 97340 فیلتر نتایج به سال:
OBJECTIVE The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dep...
We report the clinical and genetic features of a Han Chinese boy who presented with disease suspect for Alagille syndrome (ALGS). Multiple analyses (panel sequencing, multiplex-ligation-dependent probe amplification, whole genome sequencing) failed to uncover causative variant. Optical genomic mapping detected reciprocal translocation between chromosomes 4 20, interrupting JAG1. Long-range poly...
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