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Search Results to Austin Larson

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Larson, Austin

One or more keywords matched the following items that are connected to Larson, Austin

Item Type	Name
Concept	Neurodevelopmental Disorders
Academic Article	IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Academic Article	De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Academic Article	De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Academic Article	De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Academic Article	MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Academic Article	The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Academic Article	Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
Academic Article	Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Academic Article	De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Academic Article	De novo loss-of-function variant in PTDSS1 is associated with developmental delay.
Academic Article	A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Academic Article	Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.
Academic Article	Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

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Neurodevelopmental Disorders