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.
Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
Clin Genet
; 105(1): 106-108, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37866826
3.
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
4.
Whole exome sequencing identified a novel splice donor site variant in interleukin 2 receptor alpha chain.
Immunogenetics
; 75(2): 71-79, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195682
5.
Challenges associated with cellulose composite material: Facet engineering and prospective.
Environ Res
; 223: 115429, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746207
6.
Customer Analysis Using Machine Learning-Based Classification Algorithms for Effective Segmentation Using Recency, Frequency, Monetary, and Time.
Sensors (Basel)
; 23(6)2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36991889
7.
Enhancing Structural and Thermal Properties of Poly(lactic acid) Using Graphene Oxide Filler and Anionic Surfactant Treatment.
Molecules
; 28(18)2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37764218
8.
An integrated approach for evaluating freshwater ecosystems under the influence of high salinity: a case study of Manchar Lake in Pakistan.
Environ Monit Assess
; 195(11): 1340, 2023 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855951
9.
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
10.
c.151dup variant in LAMA3 in Pakistani patients affected with Shabbir Syndrome but showing mild symptoms.
Pak J Med Sci
; 39(4): 1124-1128, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37492301
11.
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
Neurogenetics
; 23(3): 203-212, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35460391
12.
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis.
Clin Exp Dermatol
; 47(6): 1137-1143, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150007
13.
Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
Klin Padiatr
; 234(3): 123-129, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34544175
14.
Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.
Medicina (Kaunas)
; 58(12)2022 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556986
15.
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 233(5): 226-230, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831955
16.
Association of endothelial nitric oxide synthase gene variants with preeclampsia.
Reprod Health
; 18(1): 163, 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321043
17.
Assessing the physico-chemical parameters and some metals of underground water and associated soil in the arid and semiarid regions of Tank District, Khyber Pakhtunkhwa, Pakistan.
Environ Monit Assess
; 193(9): 610, 2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462828
18.
Sanguinarine disrupts the colocalization and interaction of HIF-1α with tyrosine and serine phosphorylated-STAT3 in breast cancer.
J Cell Mol Med
; 24(6): 3756-3761, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065498
19.
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Mol Biol Rep
; 47(9): 7083-7088, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886330
20.
Screening, diagnosis and genetic study of breast cancer patients in Pakistan.
Pak J Med Sci
; 36(2): 16-20, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32063924