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List of works by Simone Pizzi

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

scientific article published on 17 August 2017

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

scientific article published on 4 April 2017

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

scientific article

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

scientific article published on 19 December 2016

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

scientific article published on 23 December 2017

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

scientific article published on 24 April 2018

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

scientific article published on 21 April 2018

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