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List of works by Sara Loddo

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

scientific article published on 30 May 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

scientific article published on 05 October 2018

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

scientific article published on 24 October 2020

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review

scientific article published on 27 September 2020

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome ⬇️

scientific article published on 22 March 2019

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

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