Detalhe da pesquisa
1.
A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis-2 with impaired intellectual development.
Am J Med Genet A
; 185(2): 355-361, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33141514
2.
An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
Am J Med Genet A
; 185(10): 2888-2894, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037314
3.
Effect of oxidative stress and calcium deregulation on FAM26F (CALHM6) expression during hepatitis B virus infection.
BMC Infect Dis
; 21(1): 228, 2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33639860
4.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Am J Hum Genet
; 98(2): 331-8, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805784
5.
Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.
BMC Med Genet
; 20(1): 199, 2019 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31852446
6.
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny.
J Hum Genet
; 63(1): 97-100, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215096
7.
Restoration of IL-11 and IL-15 cytokine production post calcium modulators and ROS treatment can assist viral clearance both in vitro and in vivo.
Iran J Basic Med Sci
; 26(2): 176-182, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36742132
8.
Antioxidants and Calcium Modulators Preclude in Vitro Hepatitis B Virus-Induced Mitochondrial Damage.
Turk J Gastroenterol
; 34(10): 1052-1061, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565795
9.
Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family.
J Biomol Struct Dyn
; : 1-12, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37345548
10.
Characterization and applications of glutaminase free L-asparaginase from indigenous Bacillus halotolerans ASN9.
PLoS One
; 18(11): e0288620, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015853
11.
Cost effective and efficient screening of tuberculosis disease with Raman spectroscopy and machine learning algorithms.
Photodiagnosis Photodyn Ther
; 32: 101963, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33321570
12.
Plant beneficial endophytic bacteria: Mechanisms, diversity, host range and genetic determinants.
Microbiol Res
; 221: 36-49, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825940
13.
CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.
Breast Cancer
; 26(1): 11-28, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30039340
14.
Demonstrating the application of Raman spectroscopy together with chemometric technique for screening of asthma disease.
Biomed Opt Express
; 10(2): 600-609, 2019 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30800502
15.
Analysis of tuberculosis disease through Raman spectroscopy and machine learning.
Photodiagnosis Photodyn Ther
; 24: 286-291, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359757
16.
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
Eur J Dermatol
; 28(2): 209-216, 2018 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29611532
17.
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Arch Dermatol Res
; 309(10): 773-785, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913623
18.
Raman Spectroscopy Combined with Principal Component Analysis for Screening Nasopharyngeal Cancer in Human Blood Sera.
Appl Spectrosc
; 71(11): 2497-2503, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28714322
19.
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
Int J Dermatol
; 56(12): 1406-1413, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130490