Detalhe da pesquisa
1.
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Neurol Sci
; 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38831166
2.
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Ann Neurol
; 91(4): 466-482, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35094435
3.
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
J Med Genet
; 59(4): 351-357, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811136
4.
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
J Inherit Metab Dis
; 45(2): 264-277, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34873722
5.
MicroRNA-454 modulates the oxidative stress and neuronal apoptosis after cerebral ischemia/reperfusion injury via targeting NADPH oxidase 4 (NOX4).
J Biochem Mol Toxicol
; 36(10): e23153, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36043333
6.
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
BMC Med Genet
; 21(1): 149, 2020 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677908
7.
eRAM: encyclopedia of rare disease annotations for precision medicine.
Nucleic Acids Res
; 46(D1): D937-D943, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29106618
8.
PedAM: a database for Pediatric Disease Annotation and Medicine.
Nucleic Acids Res
; 46(D1): D977-D983, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126123
9.
Shiga Toxin Type 1a (Stx1a) Reduces the Toxicity of the More Potent Stx2a In Vivo and In Vitro.
Infect Immun
; 87(4)2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670557
10.
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.
J Hum Genet
; 64(2): 113-125, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30459337
11.
Dynamics analysis of epidemic and information spreading in overlay networks.
J Theor Biol
; 444: 28-37, 2018 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29452174
12.
The phenotypic spectrum of COX20-associated mitochondrial disorder.
Brain
; 145(12): e125-e127, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136859
13.
Patterns of care among patients receiving sequential targeted therapies for advanced renal cell carcinoma: A retrospective chart review in the USA.
Int J Urol
; 24(4): 272-278, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253548
14.
Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations.
Stem Cell Res
; 76: 103346, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387170
15.
Risk of secondary immune thrombocytopenia following alemtuzumab treatment for multiple sclerosis: a systematic review and meta-analysis.
Front Neurol
; 15: 1375615, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38660089
16.
A narrative review: narrow-band imaging endoscopic classifications.
Quant Imaging Med Surg
; 13(2): 1138-1163, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819279
17.
Adsorption and desorption of flavonoids on activated carbon impregnated with different metal ions.
RSC Adv
; 13(28): 19235-19242, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377866
18.
Relationship between Overweight/Obesity and Social Communication in Autism Spectrum Disorder Children: Mediating Effect of Gray Matter Volume.
Brain Sci
; 13(2)2023 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36831723
19.
Thiamine pyrophosphokinase deficiency: report of two Chinese cases and a literature review.
Front Pediatr
; 11: 1173787, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622082
20.
Improving the Efficiency of Precise Genome Editing with CRISPR/Cas9 to Generate Goats Overexpressing Human Butyrylcholinesterase.
Cells
; 12(14)2023 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508483