Detalhe da pesquisa
1.
Blood progenitor redox homeostasis through olfaction-derived systemic GABA in hematopoietic growth control in Drosophila.
Development
; 149(8)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850846
2.
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Clin Genet
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378010
3.
Differences and overlaps between Phd studies in diagnostic microbiology in industrial and academic settings.
Med Microbiol Immunol
; 209(3): 217-223, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784890
4.
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
em Inglês
| MEDLINE | ID: mdl-30764785
5.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
6.
Cloacal Malformation Variant in a Male Neonate.
J Indian Assoc Pediatr Surg
; 23(2): 106-108, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681705
7.
Identification of a novel MKS locus defined by TMEM107 mutation.
Hum Mol Genet
; 24(18): 5211-8, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123494
8.
Adverse pregnancy outcome in patients with low pregnancy-associated plasma protein-A: The Indian Experience.
J Obstet Gynaecol Res
; 41(7): 1003-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25773764
9.
Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation.
Cleft Palate Craniofac J
; 52(2): 234-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919122
10.
Newborn screening for G6PD deficiency: A 2-year data from North India.
Indian J Public Health
; 59(2): 145-8, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26021654
11.
Mechanistic insights into mode of action of novel natural cathepsin L inhibitors.
BMC Genomics
; 14 Suppl 8: S10, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24564425
12.
Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India.
J Pediatr Genet
; 12(1): 42-47, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684552
13.
6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation.
J Pediatr Genet
; 12(2): 141-143, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090827
14.
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Eur J Med Genet
; 66(5): 104730, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36801247
15.
The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly.
Ann Indian Acad Neurol
; 25(6): 1067-1074, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911451
16.
Whole Genome Multi-Locus Sequence Typing and Genomic Single Nucleotide Polymorphism Analysis for Epidemiological Typing of Pseudomonas aeruginosa From Indonesian Intensive Care Units.
Front Microbiol
; 13: 861222, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35910643
17.
Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Ann Indian Acad Neurol
; 24(5): 686-692, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002125
18.
Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India.
Ann Indian Acad Neurol
; 24(6): 873-878, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35359537
19.
Different SARS-CoV-2 haplotypes associate with geographic origin and case fatality rates of COVID-19 patients.
Infect Genet Evol
; 90: 104730, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513449
20.
Host-Pathogen Adhesion as the Basis of Innovative Diagnostics for Emerging Pathogens.
Diagnostics (Basel)
; 11(7)2021 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359341