Last Updated: 09/26/2026
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Found 50 publications
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation.
Journal: Molecular genetics and metabolism reports
Published: November 17, 2025
A novel idiopathic transient tubulopathy associated with exercise-induced-seizures: A case report.
Journal: Epilepsy & behavior reports
Published: October 26, 2025
Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: October 08, 2025
A clinical and genotype-phenotype analysis of MACF1 variants.
Journal: American journal of human genetics
Published: January 10, 2025
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
Journal: Clinical genetics
Published: November 25, 2024
RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy.
Journal: Clinical case reports
Published: January 11, 2023
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Journal: Human molecular genetics
Published: October 05, 2022
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Journal: American journal of medical genetics. Part A
Published: March 22, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Journal: Human molecular genetics
Published: March 14, 2022
Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.
Journal: Journal of cell science
Published: September 16, 2021
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Journal: Neurology. Genetics
Published: March 28, 2021
Last Updated: 09/26/2026