Detalhe da pesquisa
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38730490
2.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet
; 108(6): 1138-1150, 2021 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33909992
3.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34815299
4.
Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease.
Pediatr Res
; 92(4): 1090-1098, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34952936
5.
Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease.
Mol Biol Rep
; 49(8): 7399-7407, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35587845
6.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clin Genet
; 100(5): 542-550, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34302356
7.
Ayme gripp syndrome in an Indian patient.
Am J Med Genet A
; 185(4): 1312-1316, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33528093
8.
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy.
Am J Med Genet A
; 185(5): 1550-1553, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33615695
9.
Wolf-Hirschhorn syndrome: A case series from India.
Am J Med Genet A
; 182(12): 3048-3051, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32914558
10.
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
BMC Med Genet
; 20(1): 31, 2019 02 14.
Artigo
Inglês
| MEDLINE | ID: mdl-30764785
11.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Clin Genet
; 95(3): 398-402, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30394532
12.
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.
J Clin Immunol
; 39(6): 611-615, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31338742
13.
Case Studies of Two Classical Imprinting Growth Disorders: Silver-Russell and Beckwith-Wiedemann Syndromes.
J Pediatr Genet
; 13(2): 127-132, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38721577
14.
Influence of forkhead box protein 3 gene polymorphisms in recurrent pregnancy loss: A meta-analysis.
Placenta
; 146: 79-88, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38198891
15.
Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.
Ophthalmic Genet
; : 1-5, 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38289830
16.
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.
J Pediatr Genet
; 13(1): 6-14, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38567171
17.
Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.
Heliyon
; 10(1): e23685, 2024 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38226287
18.
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
J Clin Res Pediatr Endocrinol
; 16(1): 41-49, 2024 03 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37750395
19.
Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.
J Pediatr Genet
; 13(2): 81-89, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38721576
20.
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in North Indian Population.
J Clin Res Pediatr Endocrinol
; 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38523344