Found: 11
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Investigation of Variants Causing Hot Water Epilepsy by Whole Exome Sequencing Approach.
- Published in:
- Experimed, 2022, v. 12, n. 1, p. S15
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- Publication type:
- Article
Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 5, p. 2271, doi. 10.1007/s10072-023-07211-y
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- Publication type:
- Article
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2527, doi. 10.1007/s10072-023-06699-8
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- Publication type:
- Article
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
- Published in:
- 2018
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- Publication type:
- journal article
Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2019, v. 25, n. 4, p. 233, doi. 10.4274/tnd.2019.61214
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- Publication type:
- Article
SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME.
- Published in:
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi, 2020, v. 83, n. 3, p. 177, doi. 10.26650/IUITFD.2019.0064
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- Publication type:
- Article
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
- Published in:
- NeuroMolecular Medicine, 2019, v. 21, n. 1, p. 54, doi. 10.1007/s12017-018-08522-6
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- Publication type:
- Article
Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations.
- Published in:
- Archives of Epilepsy, 2023, v. 29, n. 4, p. 121, doi. 10.4274/ArchEpilepsy.2023.23082
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- Publication type:
- Article
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1886
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- Publication type:
- Article
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/5518289
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- Publication type:
- Article
Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211917
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- Publication type:
- Article