Associated Papers
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N et al.
Brain : a Journal of Neurology, 2020
32282878 (PubMed )
Supplement: awaa085_supplementary_data.zip › awaa085-suppl_data › brain-2019-01328-File007.pdf
Select a paper to view details