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Lista de obras de Laura Bernardini

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

artículo científico publicado en 2019

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

artículo científico

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

artículo científico publicado en 2013

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

scientific article published on 17 June 2019

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

artículo científico publicado en 2022

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

artículo científico publicado en 2011

Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

artículo científico publicado en 2021

Small 4p16.3 deletions: Three additional patients and review of the literature

article

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

artículo científico publicado en 2007

Ulerythema Ophryogenes, a Rare and Often Misdiagnosed Syndrome: Analysis of an Idiopathic Case ⬇️

artículo científico publicado el 1 de abril de 2011

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

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