Terkko Navigator / Application of Clinical Genetics

Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation

CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus

HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

Genetic Testing in CYLD Cutaneous Syndrome: An Update

Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study

Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease

ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand

Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt

Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype

NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia

Mutations Involved in Premature-Ageing Syndromes

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer

Genetic Predictors of Mortality in Patients with Multiple Myeloma

Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported

GM1 Gangliosidosis: Mechanisms and Management

The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos

Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension

Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma

Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern]

A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India

Genetic Factors Underlying Sudden Infant Death Syndrome

Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations

The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance

A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People

Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers

Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases

Incidence of HNF1A and GCK MODY Variants in a South African Population

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date

The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization