Serge B. Melancon
Montreal, QC, Canada
Last Updated: 09/26/2026
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Found 14 publications
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Journal: Journal of medical genetics
Published: February 16, 2023
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 29, 2020
The Québec NTBC Study.
Journal: Advances in experimental medicine and biology
Published: July 30, 2017
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Journal: Human molecular genetics
Published: July 30, 2015
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Journal: Human mutation
Published: January 15, 2015
Screening for Pompe Disease in Specific At-Risk Populations with Sleep-Disordered Breathing.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Journal: Molecular genetics and metabolism
Published: June 03, 2013
Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
Journal: Molecular genetics and metabolism
Published: October 22, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec.
Journal: Molecular genetics and metabolism
Published: May 27, 2012
Last Updated: 09/26/2026