Found: 5
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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 103, doi. 10.1111/cge.14226
- By:
- Publication type:
- Article
De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1231, doi. 10.1002/mds.29791
- By:
- Publication type:
- Article
A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity?
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 918, doi. 10.1002/mds.29765
- By:
- Publication type:
- Article
CACNA1H variants are not a cause of monogenic epilepsy.
- Published in:
- Human Mutation, 2020, v. 41, n. 6, p. 1138, doi. 10.1002/humu.24017
- By:
- Publication type:
- Article