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Lista de obras de Vera Bianchi

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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