Annals Of Human Genetics

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations

Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease

Parent-of-origin-environment interactions in case-parent triads with or without independent controls

Gene-based evaluation of low-frequency variation and genetically-predicted gene expression impacting risk of keloid formation

Genetic relatedness of indigenous ethnic groups in northern Borneo to neighboring populations from Southeast Asia, as inferred from genome-wide SNP data

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family

Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia