Terkko Navigator / Application of Clinical Genetics

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

The Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population

Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors

The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study

Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study

Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide

Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis