Detalhe da pesquisa
1.
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
Clin Genet
; 105(2): 226-227, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849383
2.
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Neurogenetics
; 24(2): 113-127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790591
3.
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Prenat Diagn
; 43(5): 579-595, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36964991
4.
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Am J Med Genet A
; 188(4): 1317-1322, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989134
5.
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Fetal Pediatr Pathol
; 41(6): 1041-1051, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821546
6.
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program.
Am J Med Genet A
; 185(1): 274-277, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051992
7.
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
Am J Med Genet A
; 185(8): 2345-2355, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942996
8.
Resolving fetal hydrops - A rare entity.
Eur J Med Genet
; 66(12): 104888, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993095
9.
Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients: A prospective cohort study conducted at a tertiary care center in Northern India.
Asian J Transfus Sci
; 17(2): 145-150, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38274964
10.
Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.
Int J Gen Med
; 15: 5133-5144, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637703
11.
Management of pregnant female with Haemophilia-A: A case report.
J Family Med Prim Care
; 11(9): 5683-5685, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36505660
12.
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
Clin Dysmorphol
; 31(2): 59-65, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845156
13.
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.
Eur J Med Genet
; 65(6): 104520, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568357
14.
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Int J Lab Hematol
; 44(1): 186-192, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590426
15.
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Eur J Med Genet
; 65(3): 104447, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144014
16.
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.
Eur J Med Genet
; 64(12): 104345, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597860
17.
Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
Eur J Med Genet
; 64(7): 104235, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945887
18.
Diversity-oriented synthesis of benzimidazole, benzoxazole, benzothiazole and quinazolin-4(3H)-one libraries via potassium persulfate-CuSO4-mediated oxidative coupling reactions of aldehydes in aqueous micelles.
Mol Divers
; 14(2): 331-41, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19578945
19.
Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature.
J Craniovertebr Junction Spine
; 11(4): 276-286, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824557
20.
Inhibition of HIV-1 gene expression by Ciclopirox and Deferiprone, drugs that prevent hypusination of eukaryotic initiation factor 5A.
Retrovirology
; 6: 90, 2009 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19825182