Mehdi Yeganeh
Sherbrooke, QC J1E4K8, Canada
Last Updated: 09/26/2026
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Found 17 publications
Shashi-Pena syndrome with late-onset specific hypogammaglobinaemia and autoimmune cytopenia.
Journal: BMJ case reports
Published: August 04, 2025
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Journal: NPJ genomic medicine
Published: March 28, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Journal: American journal of human genetics
Published: February 03, 2025
A case of hyperlysinemia identified by urine newborn screening.
Journal: JIMD reports
Published: August 11, 2023
Hepatic stellate cell-intrinsic role of SOCS1 in controlling hepatic fibrogenic response and the pro-inflammatory macrophage compartment during liver fibrosis.
Journal: Frontiers in immunology
Published: July 15, 2023
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Journal: Molecular genetics and metabolism reports
Published: January 06, 2023
Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report.
Journal: Seizure
Published: July 26, 2019
Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.
Journal: Journal of dentistry for children (Chicago, Ill.)
Published: April 18, 2019
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.
Journal: Biochemical and biophysical research communications
Published: February 13, 2019
Last Updated: 09/26/2026