Last Updated: 09/26/2026
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Found 77 publications
Correction: Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.
Journal: Molecular and cellular pediatrics
Published: August 05, 2026
Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.
Journal: Molecular and cellular pediatrics
Published: April 13, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.
Journal: The Journal of clinical investigation
Published: September 11, 2025
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
Journal: Annals of neurology
Published: May 11, 2025
The genetic and phenotypic spectrum of GABRB1-related disorders.
Journal: Brain : a journal of neurology
Published: December 19, 2024
DOCK8 in T cells promotes Th17 and Treg cell functionality to restrain mucosal mast cells and limit susceptibility to oral anaphylaxis.
Journal: Immunity
Published: April 22, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 02, 2024
Design of an innovative aptasensor for the detection of chemotherapeutic drug Fludarabine phosphate.
Design of an innovative aptasensor for the detection of chemotherapeutic drug Fludarabine phosphate.
Journal: Scientific reports
Published: March 15, 2024
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Journal: NPJ genomic medicine
Published: December 01, 2023
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Journal: American journal of human genetics
Published: April 20, 2023
Last Updated: 09/26/2026