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
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 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 › together
A Metabolic Basis for Endothelial-to-Mesenchymal Transition.
Xiong J et al.
Molecular Cell, 2018
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
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