Novel PATL2 variants cause female infertility with oocyte maturation defect.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 8, p. 1965, doi. 10.1007/s10815-024-03150-5
- By:
- Publication type:
- Article
Works by Hu, Hua-ying
Results: 12
1
2
Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta.
- Published in:
- Genes, 2022, v. 13, n. 9, p. 1578, doi. 10.3390/genes13091578
- By:
- Publication type:
- Article
3
TAT&RGD Peptide-Modified Naringin-Loaded Lipid Nanoparticles Promote the Osteogenic Differentiation of Human Dental Pulp Stem Cells.
- Published in:
- International Journal of Nanomedicine, 2022, v. 17, p. 3269, doi. 10.2147/IJN.S371715
- By:
- Publication type:
- Article
4
SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.
- Published in:
- Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08175-9
- By:
- Publication type:
- Article
5
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.
- Published in:
- Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70062
- By:
- Publication type:
- Article
6
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2401
- By:
- Publication type:
- Article
7
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1839
- By:
- Publication type:
- Article
8
Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.763467
- By:
- Publication type:
- Article
9
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
10
Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
- Published in:
- DNA & Cell Biology, 2021, v. 40, n. 6, p. 833, doi. 10.1089/dna.2021.0097
- By:
- Publication type:
- Article
11
Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
12
NTRK1 knockdown induces mouse cognitive impairment and hippocampal neuronal damage through mitophagy suppression via inactivating the AMPK/ULK1/FUNDC1 pathway.
- Published in:
- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01685-7
- By:
- Publication type:
- Article