European Journal of Human Genetics

Analysis of alterations of WFDC1, a new putative tumour suppressor gene, in hepatocellular carcinoma

Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome

Clinical utility gene card for: Phenylketonuria

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI)

Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family