Application of Clinical Genetics

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

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

Barth syndrome: mechanisms and management

Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry

MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population

Mitochondrial DNA D-loop sequencing reveals obesity variants in an Arab population

Ketogenic diet attenuates cerebellar atrophy progression in a subject with a biallelic variant at the ATAD3A locus

High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease

A two gene-based risk score predicts alcoholic cirrhosis development in males with at-risk alcohol consumption

Pharmacogenetics of alcohol addiction: current perspectives

ACE gene polymorphism and its association with serum erythropoietin and hemoglobin \u200ein Iraqi hemodialysis patients

Genetics of COPA syndrome

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

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

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

Spotlight on Warsaw Breakage Syndrome

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

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

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

COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

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

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

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

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

Correlates of genetic attributions among parents of children in the USA with developmental disabilities

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