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List of works by Paola Francesca Ajmone

A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.

scientific article published on 5 May 2016

A new report of Cornelia de Lange syndrome associated with split hand and feet

scientific article published on 18 September 2012

Adolescents and adults affected by Cornelia de Lange syndrome: A report of 73 Italian patients

scientific article published on 10 May 2016

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

scientific article published on 7 February 2014

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

scientific article published on 31 August 2016

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

scientific article published on 01 October 2018

Electroclinical phenotype in Rubinstein-Taybi syndrome.

scientific article published on 8 February 2016

Klinefelter syndrome in preschool children: the importance of an early multidisciplinary approach for patients and families.

scientific article published on 23 March 2016

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

scientific article published on May 2015

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

scientific article published on 4 January 2018

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

scientific article published on 10 April 2018

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

scientific article

Sleep disorders in Cornelia de Lange syndrome

scientific article

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

scientific article published on 30 May 2018

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