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1.
Clinical characteristics and prognosis of pediatric myelin oligodendrocyte glycoprotein antibody-associated diseases in China.
BMC Pediatr
; 22(1): 666, 2022 11 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-36401212
2.
Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 481-486, 2021 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34704420
3.
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
Neurol Sci
; 39(10): 1697-1703, 2018 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29980873
4.
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in TH.
Med Sci Monit
; 24: 751-757, 2018 Feb 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29405179
5.
Integrin beta and receptor for activated protein kinase C are involved in the cell entry of Bombyx mori cypovirus.
Appl Microbiol Biotechnol
; 101(9): 3703-3716, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28175946
6.
Proteomics analysis of digestive juice from silkworm during Bombyx mori nucleopolyhedrovirus infection.
Proteomics
; 15(15): 2691-700, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25914115
7.
The gene expression profile of resistant and susceptible Bombyx mori strains reveals cypovirus-associated variations in host gene transcript levels.
Appl Microbiol Biotechnol
; 99(12): 5175-87, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25957492
8.
Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.
Pharmgenomics Pers Med
; 17: 289-318, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38827181
9.
Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome.
Heliyon
; 10(4): e26743, 2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38434094
10.
Discovery of Orally Bioavailable and Potent CDK9 Inhibitors for Targeting Transcription Regulation in Triple-Negative Breast Cancer.
J Med Chem
; 2024 Jun 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38885173
11.
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.
Mol Genet Genomic Med
; 11(9): e2202, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37288707
12.
The Study on the Clinical Phenotype and Function of HPRT1 Gene.
Child Neurol Open
; 9: 2329048X221108821, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35875183
13.
Comprehensive landscape of the ST3GAL family reveals the significance of ST3GAL6-AS1/ST3GAL6 axis on EGFR signaling in lung adenocarcinoma cell invasion.
Front Cell Dev Biol
; 10: 931132, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36092699
14.
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Stem Cell Res
; 62: 102798, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35537242
15.
Correlation Between Tic Disorders and Serum 25-Hydroxyvitamin D Levels in Chinese Children.
Front Pediatr
; 10: 833371, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35615632
16.
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Stem Cell Res
; 59: 102621, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34968892
17.
Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.
Front Cell Dev Biol
; 10: 853127, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35386198
18.
Identification of ST3GAL5 as a prognostic biomarker correlating with CD8+ T cell exhaustion in clear cell renal cell carcinoma.
Front Immunol
; 13: 979605, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36172374
19.
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Front Pediatr
; 10: 997088, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36467477
20.
Segawa syndrome caused by TH gene mutation and its mechanism.
Front Genet
; 13: 1004307, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36568392