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Publications by Jana Vandrovcova

Author Correction: Biallelic Expansion of an Intronic Repeat in RFC1 Is a Common Cause of Late-Onset Ataxia

Nature Genetics
Genetics
2019English

LRP10 in Α-Synucleinopathies

The Lancet Neurology
Neurology
2018English

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , Which Encode Subcomponents C1r and C1s of Complement

American Journal of Human Genetics
Genetics
2016English

Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy

Journal of Neurology, Neurosurgery and Psychiatry
PsychiatryMental HealthNeurologySurgery
2018English

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

2019English

Genome-Wide Linkage Scan for Colorectal Cancer Susceptibility Genes Supports Linkage to Chromosome 3q

BMC Cancer
Cancer ResearchOncologyGenetics
2008English

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