Associated Papers
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
Elmas M et al.
Molecular Biology Reports, 2019
Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.
Kizhakkedath P et al.
Scientific Reports, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
Micalizzi A et al.
Neurogenetics, 2016
Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.
Kizhakkedath P et al.
Biochimica Et Biophysica Acta, 2014
Challenges of diagnostic exome sequencing in an inbred founder population.
Azmanov DN et al.
Molecular Genetics & Genomic Medicine, 2013
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