Associated Papers
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
Mederer T et al.
Plos Genetics, 2020
33151932 (PubMed )
Supplement: pgen.1009106.s004.pdf
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_MOESM3_ESM.xlsx › skeletal_muscle
Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease.
Caso E et al.
Injury, 2017
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