Detalhe da pesquisa
1.
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
Am J Med Genet A
; 191(4): 1038-1043, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637080
2.
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.
Ann Hum Genet
; 85(3-4): 138-145, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33655537
3.
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis.
Prenat Diagn
; 41(11): 1414-1424, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302381
4.
Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases.
Indian J Pediatr
; 87(3): 175-178, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997239
5.
Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings.
Indian Pediatr
; 57(2): 180-181, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060250
6.
Methylene Tetrahydrofolate Reductase Deficiency.
Indian J Pediatr
; 87(11): 951-953, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451826
7.
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
J Pediatr Genet
; 8(3): 153-156, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31406622