European Journal of Medical Genetics

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia

15q11.2 microdeletion -Seven new patients with delayed development and/or behavioural problems

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype

A new mutation for Huntington disease following maternal transmission of an intermediate allele

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations

A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion

A different approach to telomere analysis with ddPRINS in chronic lymphocytic leukemia

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

A 12Mb deletion of 6p24.1=>pter in an 18-gestational-week fetus with orofacial clefting, the Dandy-Walker malformation and bilateral multicystic kidneys

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome