Terkko Navigator / Molecular Genetics & Genomic Medicine

Genetic variants related to successful migraine prophylaxis with verapamil

Genetic and clinical spectrums in Korean Charcot‐Marie‐Tooth disease patients with myelin protein zero mutations

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

DNA methylation of tumour necrosis factor (TNF) alpha gene is associated with specific blood fatty acid levels in a gender‐specific manner

Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta

A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia

Investigating the ACE2 polymorphisms in COVID‐19 susceptibility: An in silico analysis

Novel HEXA variants in Korean children with Tay–Sachs disease with regression of neurodevelopment from infancy

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

Expanding the phenotype of CACNA1C mutation disorders

Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping

Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review

Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia

Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients

A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study

Mitochondrial DNA insert into CD40 ligand gene‐associated X‐linked hyper‐IgM syndrome

Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Stepwise shortening of agalsidase beta infusion duration in Fabry disease: Clinical experience with infusion rate escalation protocol

Patients’ and caregivers’ maximum acceptable risk of death for non‐curative gene therapy to treat Duchenne muscular dystrophy

Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

Panel‐based genetic testing for inherited retinal disease screening 176 genes

Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

The association of MOV10 polymorphism and expression levels with preeclampsia in the Chinese Han population

Defective INPP5E distribution in NPHP1‐related Senior–Loken syndrome

Hydatidiform mole diagnostics using circulating gestational trophoblasts isolated from maternal blood

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

MiR‐485‐3p serves as a biomarker and therapeutic target of Alzheimer's disease via regulating neuronal cell viability and neuroinflammation by targeting AKT3

Early truncation of the N‐terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype

NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants

Total number of reads affects the accuracy of fetal fraction estimates in NIPT

Association of the STAT4, CDKN1A, and IRF5 variants with risk of lupus nephritis and renal biopsy classification in patients in Vietnam

First reported CABP2‐related non‐syndromic hearing loss in Northern Europe

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency

Worldwide variation of the COL14A1 gene is shaped by genetic drift rather than selective pressure

The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central‐Southern China

Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next‐generation sequencing

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly

Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

Association of MACROD2 gene variants with obesity and physical activity in a Korean population

Relationship of ITPKA expression with the prognosis of breast cancer

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis

Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population