Associated Papers
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.
Patowary A et al.
Translational Psychiatry, 2019
30664616 (PubMed )
Supplement: 41398_2018_343_MOESM3_ESM.xlsx › All_Variants
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Kambouris M et al.
Annals of Clinical and Translational Neurology, 2017
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