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1.
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies.
J Clin Immunol
; 44(6): 127, 2024 May 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38773005
2.
A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Pediatr Neurol
; 152: 200-208, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38306901
3.
Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.
J Appl Genet
; 65(2): 367-373, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38418803
4.
Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient.
Stem Cell Res
; 71: 103165, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37478672
5.
Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.
Mol Cytogenet
; 16(1): 11, 2023 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37303060
6.
Notch-mediated lactate metabolism regulates MDSC development through the Hes1/MCT2/c-Jun axis.
Cell Rep
; 38(10): 110451, 2022 03 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35263597
7.
Effect of ß-amyloid (25-35) on mitochondrial function and expression of mitochondrial permeability transition pore proteins in rat hippocampal neurons.
J Cell Biochem
; 112(5): 1450-7, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21321998
8.
Correction to: Novel FOXP2 variant associated with speech and language dysfunction in a Chinese family and literature review.
J Appl Genet
; 65(2): 417, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38523169
9.
[Subcellular localization and resistance to Gibberella fujikuroi of AtELHYPRP2 in transgenic tobacco].
Sheng Wu Gong Cheng Xue Bao
; 30(3): 472-84, 2014 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-25007583
10.
Plasmalemma localisation of DOUBLE HYBRID PROLINE-RICH PROTEIN 1 and its function in systemic acquired resistance of Arabidopsis thaliana.
Funct Plant Biol
; 41(7): 768-779, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32481031
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