Francesca Novara

A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy.

High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma.

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

MEF2C deletions and mutations versus duplications: a clinical comparison.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

MECP2 duplication phenotype in symptomatic females: report of three further cases.

Hyper IgE syndrome: anaphylaxis in a patient carrying the N567D STAT3 mutation.

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients.

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

Genome-wide copy number analysis in pediatric glioblastoma multiforme.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia.

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.