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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms
Article de revueAm J Med Genet A, 191 (8), 2023.
Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling
Article de revueCurr Issues Mol Biol, 45 (3), 2023.
The most common European HINT1 neuropathy variant phenotype and its case studies
Article de revueFront Neurol, 14 , 2023.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Article de revueNeurol Genet, 8 (3), 2022.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related
Article de revueHum Mutat, 43 (10), 2022.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
Article de revueNeurol Genet, 8 (3), 2022.
Case Report: Two Families With HPDL Related Neurodegeneration
Article de revueFront Genet, 13 , 2022.
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy
Article de revueFront Neurol, 12 , 2021.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy
Article de revueJIMD Rep, 59 (1), 2021.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report
Article de revueBMC Neurol, 20 (1), 2020.