Detalhe da pesquisa
1.
Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
J Gene Med
; 26(1): e3601, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758467
2.
Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
Mol Biol Rep
; 51(1): 573, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662334
3.
Comprehensive in-silico analysis of deleterious SNPs in APOC2 and APOA5 and their differential expression in cancer and cardiovascular diseases conditions.
Genomics
; 115(2): 110567, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36690263
4.
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Clin Genet
; 103(2): 219-225, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36155908
5.
Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.
Medicina (Kaunas)
; 59(2)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36837579
6.
The mechanism of antigen-presentation of avian bone marrowed dendritic cells suppressed by infectious bronchitis virus.
Genomics
; 113(4): 1719-1732, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33865956
7.
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Hum Genet
; 140(4): 579-592, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048237
8.
Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up.
Clin Genet
; 100(6): 659-677, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195994
9.
A comparison of intravenous midazolam and diazepam in management of status epilepticus in children.
J Pak Med Assoc
; 71(2(B)): 640-644, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941951
10.
Genetic polymorphisms in cell cycle regulatory genes CCND1 and CDK4 are associated with susceptibility to breast cancer.
J BUON
; 20(4): 985-93, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26416047
11.
The Potential Roles of Host Cell miRNAs in Fine-Tuning Bovine Coronavirus (BCoV) Molecular Pathogenesis, Tissue Tropism, and Immune Regulation.
Microorganisms
; 12(5)2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38792727
12.
The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.
J Biomol Struct Dyn
; 42(7): 3700-3711, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37222604
13.
Effectiveness of Autoinoculation in Patients with Multiple Warts Presenting at a Tertiary Care Hospital.
J Coll Physicians Surg Pak
; 33(1): 16-19, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36597229
14.
Structural and dynamics insights into the GBA variants associated with Parkinson's disease.
J Biomol Struct Dyn
; : 1-13, 2023 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434319
15.
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Front Pediatr
; 11: 1266376, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37900685
16.
Commonly expressed key transcriptomic profiles of sepsis in the human circulation and brain via integrated analysis.
Int Immunopharmacol
; 104: 108518, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032827
17.
Nrf2 Activation and NF-Kb & caspase/bax signaling inhibition by sodium butyrate alleviates LPS-induced cell injury in bovine mammary epithelial cells.
Mol Immunol
; 148: 54-67, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35671559
18.
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.
Genes (Basel)
; 13(8)2022 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35893069
19.
Inhibition of the antigen-presenting ability of dendritic cells by non-structural protein 2 of influenza A virus.
Vet Microbiol
; 267: 109392, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35259598
20.
Proteomics approaches: A review regarding an importance of proteome analyses in understanding the pathogens and diseases.
Front Vet Sci
; 9: 1079359, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36601329