Terkko Navigator / Application of Clinical Genetics

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus [Response to Letter]

Ketogenic diet in ATAD3A mutation carriers may not improve cerebellar atrophy but some clinical features [Letter]

Polymorphisms of CYP2C9*2, CYP2C9*3 and VKORC1 genes related to time in therapeutic range in patients with atrial fibrillation using warfarin

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Pharmacogenetics of alcohol addiction: current perspectives

Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy

ACE gene polymorphism and its association with serum erythropoietin and hemoglobin ‎in Iraqi hemodialysis patients

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