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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
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63529
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- Article
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype.
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- Clinical Genetics, 2024, v. 105, n. 3, p. 302, doi. 10.1111/cge.14451
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- Article
Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.
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- Indian Journal of Pediatrics, 2022, v. 89, n. 6, p. 594, doi. 10.1007/s12098-021-04000-3
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- Article