Associated Papers
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Di Stazio M et al.
Genes, 2023
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
Select a paper to view details