Associated Papers
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
38535124 (PubMed )
Supplement: IJNS-10-00020-s001.zip › 20231205_Supplementary_files_definitief_nieuwerefs.pdf
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.
Zhou J et al.
Frontiers in Pediatrics, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
28548933 (PubMed )
Supplement: oncotarget-08-47574-s002.xlsx › Sheet1
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