Terkko Navigator / European Journal of Human Genetics

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability

A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1)

Co-introgression of Y-chromosome haplogroups and the sickle cell gene across Africa's Sahel

Guidelines for molecular karyotyping in constitutional genetic diagnosis

No association of ERCC1 C8092A and T19007C polymorphisms to cancer risk: a meta-analysis

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau

Ashkenazi Jewish mtDNA haplogroup distribution varies among distinct subpopulations: lessons of population substructure in a closed group

Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations