Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table5.xlsx › nsPOI
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
29937522 (PubMed )
Supplement: ijms-19-01858-s001.zip › ijms-320037-supp › Supplementary_File_S1.xlsx › EM123_and_EM-S_SNV
Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.
Han J et al.
Mechanisms of Ageing and Development, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Hirata H et al.
American Journal of Human Genetics, 2013
Select a paper to view details