Associated Papers
WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.
Lin X et al.
European Journal of Medical Research, 2025
40826479 (PubMed )
Supplement: 40001_2025_3024_MOESM2_ESM.xlsx › Sheet1
Skraban-Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly.
Gross A et al.
Febs Letters, 2024
38575527 (PubMed )
Supplement: EMS198546-supplement-Supplemental_material.pdf
Aberrant alternative splicing events in Parkinson's disease.
Fu RH et al.
Cell Transplantation, 2013
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.
Hadjisavvas A et al.
Human Mutation, 2003
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