Search Results

You are looking at 1 - 3 of 3 items for :

  • "target gene panel" x
Clear All
Open access

Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

measurement during hypoglycaemia and IGF-1 and IGFBP-3 levels less than −2 SDS for age and sex. As patients were studied at different centres using different hormonal assays, normal ranges of each centre were considered. Target gene panel Genomic DNA was

Open access

Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

improved the diagnostic yield ( 6 , 9 ). While whole-exome and/or genome sequencing (WES/WGS) are still reserved for the research environment, targeted gene panels are becoming widely used in the diagnostic algorithms of 46,XY DSD on a routine basis ( 10

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

cohort . Genome Biology 2016 17 243 . ( ) 27899157 10.1186/s13059-016-1105-y 12 Kim JH Kang E Heo SH Kim GH Jang JH Cho EH Lee BH Yoo HW Choi JH . Diagnostic yield of targeted gene panel sequencing to