Detalhe da pesquisa
1.
A novel homozygous variant in PMVK is associated with enhanced IL1ß secretion and a hyper-IgD syndrome-like phenotype.
Clin Genet
; 105(3): 302-307, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38018277
2.
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
em Inglês
| MEDLINE | ID: mdl-38374498
3.
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Am J Med Genet A
; 194(5): e63529, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179855
4.
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Clin Dysmorphol
; 32(4): 162-167, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646703
5.
Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene.
Indian J Pediatr
; 89(6): 594-596, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032020
6.
Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
Indian J Pediatr
; 2022 Jun; 89(6): 594–596
Artigo
| IMSEAR | ID: sea-223717