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Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
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- Article
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
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- Neurogenetics, 2023, v. 24, n. 2, p. 113, doi. 10.1007/s10048-023-00712-0
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- Article
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 2, p. 94, doi. 10.1111/ahg.12452
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- Article
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 2, p. 201, doi. 10.1111/cge.13970
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- Article
Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1602, doi. 10.1002/ajmg.a.62115
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- Article