Latest papers

Idiopathic corporeal hemihypertrophy associated with hemihypertrichosis.

Oral findings in a child with lipoid proteinosis: a case report and review.

Posterior neonatal teeth.

Spondyloenchondrodysplasia: a rare cause of short stature.

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Pediatric pulmonology in a developing country: our focus.

Congenital myasthenic syndrome: a case report.

Neurological Wilson's disease with refractory rickets.

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Genetic screening in the Persian Jewish community: A pilot study.

Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.

Molecular genetics of beta-thalassaemia syndrome in Pakistan.

Genetic variability in autochthonous Basques from Guipuzcoa: a view from MHC microsatellites.

HLA sharing among couples appears unrelated to idiopathic recurrent fetal loss in Saudi Arabia.

Demographic structure and microevolution of an Italian alpine isolated population.

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.