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
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
38622473 (PubMed )
Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1
Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.
Zhang W et al.
Annals of Clinical and Translational Neurology, 2020
32941707 (PubMed )
Supplement: ACN3-7-1985-s003.xlsx › sheet
Genomic profile analysis of diffuse-type gastric cancers.
Lee YS et al.
Genome Biology, 2014
24690483 (PubMed )
Supplement: gb-2014-15-4-r55-S2.xlsx › Additional_file_2
The very low density lipoprotein receptor-associated pontocerebellar hypoplasia and dysmorphic features in three Turkish patients.
Sonmez FM et al.
Journal of Child Neurology, 2013
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