Detalhe da pesquisa
1.
Result of a Pilot External Quality Assessment Scheme for Clinical Diagnosis of Inherited Metabolic Disorders in China.
Clin Lab
; 70(4)2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38623669
2.
A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination.
Arch Biochem Biophys
; 742: 109619, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142076
3.
Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.
Am J Med Genet A
; 188(3): 836-846, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889507
4.
20-HETE downregulates Na/K-ATPase α1 expression via the ubiquitination pathway.
Prostaglandins Other Lipid Mediat
; 152: 106503, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199266
5.
Renal NKCC2 Is Dual Regulated by the Synergy of 20-HETE and High-Fat Diet in CYP4F2 Transgenic Mice.
Kidney Blood Press Res
; 46(5): 601-612, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320496
6.
Neddylation-mediated Nedd4-2 activation regulates ubiquitination modification of renal NBCe1.
Exp Cell Res
; 390(2): 111958, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173470
7.
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
BMC Pregnancy Childbirth
; 21(1): 780, 2021 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789173
8.
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Neurogenetics
; 21(3): 169-177, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222895
9.
Decreased Amino Acid Concentrations are Involved in Congenital Heart Disease.
Ann Nutr Metab
; 74(3): 257-263, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917366
10.
Sponges of Carboxymethyl Chitosan Grafted with Collagen Peptides for Wound Healing.
Int J Mol Sci
; 20(16)2019 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31404991
11.
20-HETE regulated PSMB5 expression via TGF-ß/Smad signaling pathway.
Prostaglandins Other Lipid Mediat
; 134: 123-130, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807746
12.
Clinical, imaging, and follow-up observations of patients with anti-GABAB receptor encephalitis.
Int J Neurosci
; 127(5): 379-385, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27066808
13.
Variant Type of Posterior Reversible Encephalopathy Syndrome with Diffuse Cerebral White Matter and Brainstem Involvement Associated with Intracranial Hemorrhage.
J Stroke Cerebrovasc Dis
; 25(12): e233-e235, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773590
14.
Comparison of bioactive chemical space networks generated using substructure- and fingerprint-based measures of molecular similarity.
J Comput Aided Mol Des
; 29(7): 595-608, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26049785
15.
Design of chemical space networks using a Tanimoto similarity variant based upon maximum common substructures.
J Comput Aided Mol Des
; 29(10): 937-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26419860
16.
Design of an activity landscape view taking compound-based feature probabilities into account.
J Comput Aided Mol Des
; 28(9): 919-26, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25001923
17.
Differences in IGF axis-related proteins in amniotic fluid of trisomy 21 and trisomy 18 using a multiple reaction monitoring approach.
Prenat Diagn
; 34(12): 1146-52, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980135
18.
SAR transfer across different targets.
J Chem Inf Model
; 53(7): 1589-94, 2013 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777278
19.
Systematic assessment of compound series with SAR transfer potential.
J Chem Inf Model
; 52(12): 3138-43, 2012 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23186159
20.
Knowledge structure and emerging trends in the application of deep learning in genetics research: A bibliometric analysis [2000-2021].
Front Genet
; 13: 951939, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36081985