Found: 8
Select item for more details and to access through your institution.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00473-3
- By:
- Publication type:
- Article
A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 319, doi. 10.1002/ajmg.a.62506
- By:
- Publication type:
- Article
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2602, doi. 10.1002/ajmg.a.62343
- By:
- Publication type:
- Article
Genomic and transcriptomic landscape of conjunctival melanoma.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 12, p. 1, doi. 10.1371/journal.pgen.1009201
- By:
- Publication type:
- Article
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10746-4
- By:
- Publication type:
- Article
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.
- Published in:
- Cancers, 2022, v. 14, n. 6, p. 1575, doi. 10.3390/cancers14061575
- By:
- Publication type:
- Article
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01662-9
- By:
- Publication type:
- Article
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1427, doi. 10.3390/genes12091427
- By:
- Publication type:
- Article