Connection | Profiles RNS

Login to edit your profile (add a photo, awards, links to other websites, etc.)

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

Lyons, Michael

One or more keywords matched the following items that are connected to Lyons, Michael

Item Type	Name
Academic Article	De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Academic Article	Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Academic Article	Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Academic Article	Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Academic Article	Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Concept	Neurodevelopmental Disorders
Academic Article	DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Academic Article	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Academic Article	SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Academic Article	Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Search Criteria

Neurodevelopmental Disorders