TY - GEN AU - Vetro,A AU - Goidin,D AU - Lesende,I AU - Limongelli,I AU - Ranzani,G N AU - Novara,F AU - Bonaglia,M C AU - Rinaldi,B AU - Franchi,F AU - Manolakos,E AU - Lonardo,F AU - Scarano,F AU - Scarano,G AU - Costantino,L AU - Tedeschi,S AU - Giglio,S AU - Zuffardi,O TI - Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH SN - 1399-0004 PY - 2019///0911 KW - Adolescent KW - Adult KW - Child KW - Child, Preschool KW - DNA Copy Number Variations KW - Female KW - Genetic Predisposition to Disease KW - Genetic Testing KW - methods KW - Genetic Variation KW - Genome-Wide Association Study KW - High-Throughput Nucleotide Sequencing KW - Humans KW - INDEL Mutation KW - Infant KW - Loss of Heterozygosity KW - Male KW - Polymorphism, Single Nucleotide KW - Sequence Analysis, DNA KW - Young Adult N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1111/cge.13060 ER -