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List of works by Vera Bianchi

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

scientific article published on 3 December 2016

An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests

scientific article published on 17 March 2011

Association of NOD2/CARD15 mutations on Crohn's disease phenotype in an Italian population

scientific article published on 01 March 2007

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

article

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients

scientific article published on 13 January 2011

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

scientific article published on June 2008

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis

scientific article published on 06 April 2015

Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.

scientific article

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

scientific article

Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

scientific article published on 01 October 2013

Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome

article

Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings

scientific article published on 01 January 2009

Two new putative susceptibility loci for ADNFLE.

scientific article published in October 2005

When and how ruling out cystic fibrosis in adult patients with bronchiectasis

scientific article published on 09 August 2018

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