Latest papers

Are PEI-coated SWCNTs conjugated with hepatitis A virus? A chemical study with SEM, Z-potential, EDXD and RT-PCR.

Paediatric and adult autosomal dominant ataxias (update 6).

Multiple lumbar pedicle fractures in osteopetrosis: a case report.

[Advances in rapid prenatal detection of fetal chromosome abnormalities].

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

First-trimester genetic diagnosis: a series of six cases.

Pedigree and genetic study of a bilateral congenital microtia family.

Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women.

Trisomy 18 and choices.

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.

Upper airway considerations in hereditary angioedema.

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Neonatal experiences of newborns with full trisomy 18.

The frequency of Klotho KL-VS polymorphism in a large Italian population, from young subjects to centenarians, suggests the presence of specific time windows for its effect.

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

Detailed molecular and clinical characterization of three patients with 21q deletions.

[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation.

Huntington's disease.

Associated malformations in patients with limb reduction deficiencies