A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants.
- Published in:
- Experimental Dermatology, 2023, v. 32, n. 4, p. 564, doi. 10.1111/exd.14697
- By:
- Publication type:
- Article
Works by Habulieti, Xiaerbati
Results: 9
1
2
Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01060
- By:
- Publication type:
- Article
3
Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families.
- Published in:
- 2021
- By:
- Publication type:
- Letter
4
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.
- Published in:
- 2021
- By:
- Publication type:
- journal article
5
Zwei neue Genmutationen verursachen unterschiedliche Ausprägungen der Epidermolysis bullosa bei chinesischen Patienten.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 2, p. 271, doi. 10.1111/ddg.14278_g
- By:
- Publication type:
- Article
6
Two novel gene mutations cause different expressions of epidermolysis bullosa in Chinese patients.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 2, p. 272, doi. 10.1111/ddg.14278
- By:
- Publication type:
- Article
7
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.
- Published in:
- Frontiers of Medicine, 2024, v. 18, n. 1, p. 81, doi. 10.1007/s11684-023-1006-x
- By:
- Publication type:
- Article
8
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.
- Published in:
- 2022
- By:
- Publication type:
- Letter
9
Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.712275
- By:
- Publication type:
- Article