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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.Article de revue
Neuromuscul Disord, 30 (6), p. 483-491, 2020, ISSN: 0960-8966.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Article de revue
Eur J Hum Genet, 2020, ISSN: 1018-4813.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.Article de revue
BMC Neurol, 20 (1), p. 58, 2020, ISSN: 1471-2377.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.Article de revue
Am J Hum Genet, 105 (2), p. 384-394, 2019, ISSN: 0002-9297.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.Article de revue
Ann Neurol, 86 (1), p. 129-142, 2019, ISSN: 0364-5134.
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec.Article de revue
Mol Genet Genomic Med, 7 (12), p. e1000, 2019.
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.Article de revue
Int J Mol Sci, 19 (4), 2018.
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.Article de revue
Mitochondrial DNA A DNA Mapp Seq Anal, 29 (7), p. 1115-1120, 2018, ISSN: 2470-1394.
Population genetics of Latvians in the context of admixture between north-eastern European ethnic groupsArticle de revue
Proc Latv Acad Sci B Nat Exact Appl Sci, 72 (3), p. 131-151, 2018, ISSN: 1407-009X.
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Article de revue
Sci Rep, 7 (1), p. 7512, 2017, ISSN: 2045-2322.