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Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 639, doi. 10.1111/cge.14495
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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
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2175, doi. 10.1002/ajmg.a.63330
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- Article