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List of works by J Nicolai

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

scientific article published on 03 January 2019

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation

scientific article published on 01 April 2020

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

scientific article published on 27 November 2014

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

scientific article published on 07 December 2018

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

scientific article published on 13 December 2017

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

scientific article published on 09 March 2020

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