Last Updated: 09/26/2026
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Found 48 publications
Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341-Associated Cancer.
Journal: Pediatric blood & cancer
Published: June 03, 2026
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Journal: The Lancet. Neurology
Published: September 04, 2024
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2024
Human gastric multi-regional assembloids for functional parietal maturation and patient-specific modelling of antral foveolar hyperplasia.
Journal: Nature biomedical engineering
Published: May 01, 2024
Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
Journal: Brain sciences
Published: November 02, 2022
Genomic investigations of unexplained acute hepatitis in children.
Journal: Nature
Published: July 25, 2022
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Journal: Journal of the American Society of Nephrology : JASN
Published: May 03, 2021
Sirtuin 5 depletion impairs mitochondrial function in human proximal tubular epithelial cells.
Journal: Scientific reports
Published: August 04, 2020
A molecular and cellular analysis of human embryonic optic fissure closure related to the eye malformation coloboma.
Journal: Development (Cambridge, England)
Published: August 03, 2020
Molecular characterisation and vaccine efficacy of two novel developmentally regulated surface tegument proteins of Fasciola hepatica.
Journal: Veterinary parasitology
Published: July 22, 2020
Last Updated: 09/26/2026