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List of works by Paolo Alfieri

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

scientific article published on 11 November 2020

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

scientific article published on 19 August 2015

A comparison between linguistic skills and socio-communicative abilities in Williams syndrome.

scientific article published on 26 July 2017

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

scientific article published on 5 May 2012

Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross-Syndrome Study

scientific article published on 11 December 2020

Defining language disorders in children and adolescents with Noonan Syndrome

scientific article published on 14 February 2020

Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: report of five new cases

scientific article published on 13 July 2020

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

scientific article published on 8 July 2017

Neurobehavioral features in individuals with Kabuki syndrome.

scientific article published on 13 March 2018

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

scientific article published on 09 May 2016

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

scientific article published on 18 February 2020

Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome

scientific article published on 5 April 2017

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