Found: 9
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A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.
- Published in:
- 2016
- By:
- Publication type:
- commentary
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569996
- By:
- Publication type:
- Article
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
- Published in:
- Human Genetics, 2023, v. 142, n. 12, p. 1747, doi. 10.1007/s00439-023-02611-8
- By:
- Publication type:
- Article
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.883211
- By:
- Publication type:
- Article
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 4, p. 181, doi. 10.1111/ahg.12460
- By:
- Publication type:
- Article
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.738272
- By:
- Publication type:
- Article
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.720201
- By:
- Publication type:
- Article