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List of works by Marcello Scala

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

scientific article published on 5 January 2018

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

scientific article published on 27 January 2020

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum

scientific article published on 27 May 2019

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

scientific article published on 22 June 2020

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

scientific article published on 27 July 2020

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity

scientific article published on 25 March 2020

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

scientific article published on 17 September 2020

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

scientific article published on 01 January 2019

Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome

scientific article published on 21 September 2020

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

scientific article published in 2022

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

scientific article published on 20 September 2018

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation

scientific article published on 28 May 2019

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

scientific article published on 01 April 2019

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

scientific article

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