Found: 15
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Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature.
- Published in:
- Irish Journal of Medical Science, 2024, v. 193, n. 1, p. 449, doi. 10.1007/s11845-023-03452-0
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- Article
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 5, p. 1201, doi. 10.1007/s13760-021-01717-y
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- Publication type:
- Article
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
- Published in:
- Acta Neurologica Belgica, 2021, v. 121, n. 1, p. 143, doi. 10.1007/s13760-020-01527-8
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- Publication type:
- Article
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00598-5
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- Article
Heterogeneous or homogeneous? A modified decision-making approach in renewable energy investment projects.
- Published in:
- AIMS Energy, 2021, v. 9, n. 3, p. 558, doi. 10.3934/energy.2021027
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- Publication type:
- Article
A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9).
- Published in:
- BMC Genomics, 2024, p. 1, doi. 10.1186/s12864-024-10478-w
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- Article
Expression assay of the COLQ in a family with congenital myasthenic syndrome and symptomatic carriers.
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- 2023
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- Publication type:
- Case Study
Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02794-3
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- Publication type:
- Article
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02780-9
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- Publication type:
- Article
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 640, doi. 10.1007/s12311-022-01430-3
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- Publication type:
- Article
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 5, p. 1125, doi. 10.1007/s12031-022-01993-0
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- Publication type:
- Article
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 5, p. 1098, doi. 10.1007/s12031-022-01980-5
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- Publication type:
- Article
Primary and Secondary Microcephaly, Global Developmental Delay, and Seizure in Two Siblings Caused by a Novel Missense Variant in the ZNF335 Gene.
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- Journal of Molecular Neuroscience, 2022, v. 72, n. 4, p. 719, doi. 10.1007/s12031-021-01955-y
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- Publication type:
- Article
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 6, p. 1, doi. 10.1002/mgg3.2159
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- Publication type:
- Article
Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1834
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- Publication type:
- Article