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Year | Number of Results |
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2021 | 1 |
2024 | 2 |
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Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19.
Clin Genet. 2024.
PMID: 38374498
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Farooqui S, Narayanan DL, Mascarenhas S, do Rosario MC, Nair KV, Periyasamy R, Shukla A.
Farooqui S, et al.
Am J Med Genet A. 2024 May;194(5):e63529. doi: 10.1002/ajmg.a.63529. Epub 2024 Jan 5.
Am J Med Genet A. 2024.
PMID: 38179855
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Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
Majethia P, Girisha KM.
Majethia P, et al.
Am J Med Genet A. 2021 May;185(5):1602-1605. doi: 10.1002/ajmg.a.62115. Epub 2021 Feb 8.
Am J Med Genet A. 2021.
PMID: 33559318
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