Associated Papers
Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios.
Poku-Adusei E et al.
Journal of Personalized Medicine, 2025
41149818 (PubMed )
Supplement: jpm-15-00456-s001.zip › jpm-3794577-supplementary.pdf
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T et al.
Orphanet Journal of Rare Diseases, 2023
36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › ClinVar_missense_annotated
High-frequency variants in PKA signaling-related genes within a large pediatric cohort with obesity or metabolic abnormalities.
Bloyd M et al.
Frontiers in Endocrinology, 2023
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
32028661 (PubMed )
Supplement: jcm-09-00412-s001.pdf
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V et al.
Brain and Behavior, 2019
Mutation in CYP27A1 identified in family with coronary artery disease.
Inanloorahatloo K et al.
European Journal of Medical Genetics, 2013
A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450.
Wang LL et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2009
Select a paper to view details