Detalhe da pesquisa
1.
A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Clin Genet
; 104(3): 324-333, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317634
2.
Lyophilization Based Isolation of Exosomes.
Int J Mol Sci
; 24(13)2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445655
3.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697879
4.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
5.
A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome.
Clin Genet
; 100(4): 486-488, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270086
6.
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.
PLoS Genet
; 13(7): e1006897, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686597
7.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
8.
Renal transplant from infant and neonatal donors is a feasible option for the treatment of end-stage renal disease but is associated with increased early graft loss.
Am J Transplant
; 18(11): 2679-2688, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29981206
9.
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Ann Neurol
; 82(4): 562-577, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28892560
10.
Determination of drought tolerance related traits in Helianthus argophyllus, Helianthus annuus, and their hybrids.
Breed Sci
; 67(3): 257-267, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744179
11.
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans.
J Med Genet
; 52(9): 599-606, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26142438
12.
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
Hum Mol Genet
; 22(25): 5199-214, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918663
13.
Conformational analysis and geometry optimization of apomorphine as an Anti-parkinsonian agen.
Pak J Pharm Sci
; 28(5): 1685-90, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26408888
14.
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
BMC Med Genet
; 15: 133, 2014 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25496299
15.
Conformational analysis and geometry optimization of buspirone-A 5-HT1A receptor agonist.
Pak J Pharm Sci
; 27(5 Spec no): 1515-22, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25176246
16.
Structural performance of FRP composite bars reinforced rubberized concrete compressive members: Tests and numerical modeling.
Heliyon
; 10(4): e26222, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390169
17.
A band gap and photoluminescence properties engineering in BaO semiconductor for ultraviolet (UV) photodetector applications: A comprehensive role of co-doping.
J Colloid Interface Sci
; 670: 599-616, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38781651
18.
Investigation of structural, electronic and optical properties of two-dimensional MoS2-doped-V2O5 composites for photocatalytic application: a density functional theory study.
R Soc Open Sci
; 10(7): 230503, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37476508
19.
Shifts in the Distribution Range and Niche Dynamics of the Globally Threatened Western Tragopan (Tragopan melanocephalus) Due to Climate Change and Human Population Pressure.
Biology (Basel)
; 12(7)2023 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508444
20.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Sci Rep
; 13(1): 13479, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37596289