Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
The relevance of primary cilia in neurological disorders.
Serpieri V et al.
The Lancet. Neurology, 2025
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V et al.
Journal of Medical Genetics, 2023
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S et al.
Orphanet Journal of Rare Diseases, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L et al.
Genes, 2021
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC et al.
Nature Genetics, 2008
Select a paper to view details