Detalhe da pesquisa
1.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet
; 105(6): 639-654, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38374498
2.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Eur J Hum Genet
; 2023 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38114583
3.
Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities.
Eur J Med Genet
; 65(6): 104481, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35398349
4.
Reactive hemophagocytic syndrome.
Indian J Pediatr
; 75(12): 1261-3, 2008 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-18810357