Terkko Navigator / Application of Clinical Genetics

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus

Barth syndrome: mechanisms and management

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease

Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population

Correlates of genetic attributions among parents of children in the USA with developmental disabilities

MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Genetics of COPA syndrome

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

Adult-onset type II citrullinemia: Current insights and therapy