Associated Papers
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA et al.
Cold Spring Harbor Molecular Case Studies, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT et al.
Bmc Medical Genetics, 2013
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