Works matching AU Mei, Shiyue
Results: 20
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 5, p. 1, doi. 10.1002/mgg3.2447
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- Publication type:
- Article
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2025
- By:
- Publication type:
- Article
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delay.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1883
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- Publication type:
- Article
A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole‐exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1234
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- Publication type:
- Article
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00485
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- Publication type:
- Article
Case Report: Clinical manifestations and treatment of two Chinese patients with FINCA syndrome carrying a novel variant of NHLRC2.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1402545
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- Publication type:
- Article
LRRC19 expressed in the kidney induces TRAF2/6-mediated signals to prevent infection by uropathogenic bacteria.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4434, doi. 10.1038/ncomms5434
- By:
- Publication type:
- Article
MicroRNA-200c Promotes Suppressive Potential of Myeloid-Derived Suppressor Cells by Modulating PTEN and FOG2 Expression.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135867
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- Publication type:
- Article
MicroRNA-22 Impairs Anti-Tumor Ability of Dendritic Cells by Targeting p38.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121510
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- Publication type:
- Article
Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1<sup>+/−</sup> mouse model of craniosynostosis.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13018-024-04604-3
- By:
- Publication type:
- Article
Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
- Published in:
- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04185-w
- By:
- Publication type:
- Article
Status epilepticus due to fructose‐1,6‐bisphosphatase deficiency caused by FBP1 gene mutation.
- Published in:
- Pediatric Investigation, 2019, v. 3, n. 2, p. 122, doi. 10.1002/ped4.12135
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- Publication type:
- Article
Expansion of the mutation spectrum and phenotype of USP7-related neurodevelopmental disorder.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.970649
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- Publication type:
- Article
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0666-x
- By:
- Publication type:
- Article
X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.
- Published in:
- Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01866-2
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- Publication type:
- Article
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.869210
- By:
- Publication type:
- Article
Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01004-2
- By:
- Publication type:
- Article
miR-128 enhances dendritic cell-mediated anti-tumor immunity via targeting of p38.
- Published in:
- Molecular Medicine Reports, 2017, v. 16, n. 2, p. 1307, doi. 10.3892/mmr.2017.6717
- By:
- Publication type:
- Article
Dendritic Cell-Associated miRNAs Are Modulated via Chromatin Remodeling in Response to Different Environments.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0090231
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- Publication type:
- Article