Terkko Navigator / Application of Clinical Genetics

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

Alkaptonuria: Current Perspectives

Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome

The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article

Sjogren-Larsson Syndrome: Mechanisms and Management

Adverse Drug Reactions Associated with CYP 2B6 Polymorphisms in HIV/AIDS-Treated Patients in Yaoundé, Cameroon

Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives

Spotlight on Warsaw Breakage Syndrome

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon

Candidate Gene Analysis Of Alopecia Areata In Jordanian Population Of Arab Descent: A Case–Control Study

SLC22A1 And ATM Genes Polymorphisms Are Associated With The Risk Of Type 2 Diabetes Mellitus In Western Saudi Arabia: A Case-Control Study

TRIM5α 136Q, CCR5 Promoter 59029G And CCR264I Alleles Impact The Progression Of HIV In Children And Adolescents

Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)

Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population

Gene Therapy For Beta-Thalassemia: Updated Perspectives

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]