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List of works by Patrizia Ronchetto

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

scientific article published in March 2018

Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.

scientific article published on 13 June 2017

Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations

scientific article published on 04 December 2018

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

scientific article published on 19 June 2015

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

scientific article published on 5 March 2015

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia

scientific article published on 05 May 2013

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity

scientific article published on 08 August 2018

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability

article

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children ⬇️

scientific article published on April 1, 2011

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

scientific article

Preliminary results on the frequency of the ΔF508 mutation in cystic fibrosis patients from the USSR

scientific article published in September 1990

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability

scientific article published on 17 December 2013

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