Detalhe da pesquisa
1.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia
; 65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38491959
2.
Computational investigation of structural, electronic, and spectroscopic properties of Ni and Zn metalloporphyrins with varying anchoring groups.
J Chem Phys
; 160(13)2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563304
3.
Short Tandem Repeat (STR) Profiling of Earwax DNA Obtained from Healthy Volunteers.
Curr Issues Mol Biol
; 45(7): 5741-5751, 2023 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37504278
4.
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Hum Genet
; 142(3): 399-405, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564622
5.
Emergence of CuInS2 derived photocatalyst for environmental remediation and energy conversion.
Environ Res
; 238(Pt 2): 117288, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37797665
6.
Synthesis and Characterization of Aminoamidine-Based Polyacrylonitrile Fibers for Lipase Immobilization with Effective Reusability and Storage Stability.
Int J Mol Sci
; 24(3)2023 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768290
7.
Investigation of the impacts of simple electrolytes and hydrotrope on the interaction of ceftriaxone sodium with cetylpyridinium chloride at numerous study temperatures.
Chem Zvesti
; : 1-14, 2023 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37362789
8.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 104(6): 1182-1201, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130284
9.
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Clin Genet
; 99(4): 513-518, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354762
10.
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Pediatr Nephrol
; 34(9): 1615-1623, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079206
11.
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Am J Med Genet A
; 176(3): 715-721, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383837
12.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600779
13.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 105(4): 879, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585110
14.
Statistical analysis plan for the replacing protein via enteral nutrition in a stepwise approach in critically ill patients (REPLENISH) randomized clinical trial.
Trials
; 25(1): 296, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38698442
15.
The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.
Glob Med Genet
; 10(4): 278-281, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37822418
16.
Efficient Reduction in Methylene Blue Using Palladium Nanoparticles Supported by Melamine-Based Polymer.
Materials (Basel)
; 16(17)2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37687576
17.
Acrylic fabric and nanomaterials to enhance α-amylase-based biocatalytic immobilized systems for industrial food applications.
Int J Biol Macromol
; 233: 123539, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740122
18.
Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View.
Int J Clin Pediatr Dent
; 16(2): 409-415, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37519965
19.
Photo-Fenton assisted AgCl and P-doped g-C3N4 Z-scheme photocatalyst coupled with Fe3O4/H2O2 system for 2, 4-dimethylphenol degradation.
Chemosphere
; 316: 137839, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36640984
20.
Novel and Facile Colorimetric Detection of Reducing Sugars in Foods via In Situ Formed Gelatin-Capped Silver Nanoparticles.
Polymers (Basel)
; 15(5)2023 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36904327