Associated Papers
Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
Sangiorgi E et al.
Genes, 2023
38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1
The role of vascular dementia associated genes in patients with Alzheimer's disease: A large case-control study in the Chinese population.
Xiao X et al.
Cns Neuroscience & Therapeutics, 2021
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Karolak JA et al.
Molecular Vision, 2011
Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
Zhang KW et al.
Pediatric Nephrology (berlin, Germany), 2007
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