Habulieti X - Search Results

1

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Yu X, Wang RR, Han SR, Bai X, Habulieti X, Sun Y, Sun LW, Zhang H, Khan A, Zhang X. Yu X, et al. Among authors: habulieti x. Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316. Chin Med J (Engl). 2019. PMID: 31261205 Free PMC article. No abstract available.

2

Two novel gene mutations cause different expressions of epidermolysis bullosa in Chinese patients.

Habulieti X, Wang R, Liu J, Ma DL, Zhang X. Habulieti X, et al. J Dtsch Dermatol Ges. 2021 Feb;19(2):272-274. doi: 10.1111/ddg.14278. Epub 2020 Oct 8. J Dtsch Dermatol Ges. 2021. PMID: 33029849 No abstract available.

3

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

Sun L, Khan A, Zhang H, Han S, Habulieti X, Wang R, Zhang X. Sun L, et al. Among authors: habulieti x. Front Pediatr. 2020 Dec 1;8:585053. doi: 10.3389/fped.2020.585053. eCollection 2020. Front Pediatr. 2020. PMID: 33335874 Free PMC article.

4

Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families.

Habulieti X, Sun L, Liu J, Guo K, Yang X, Wang R, Ma D, Zhang X. Habulieti X, et al. Sci China Life Sci. 2021 Dec;64(12):2206-2209. doi: 10.1007/s11427-020-1922-3. Epub 2021 May 13. Sci China Life Sci. 2021. PMID: 33999308 No abstract available.

5

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.

Liu JW, Habulieti X, Wang RR, Ma DL, Zhang X. Liu JW, et al. Among authors: habulieti x. J Clin Lab Anal. 2021 Jun;35(6):e23803. doi: 10.1002/jcla.23803. Epub 2021 May 24. J Clin Lab Anal. 2021. PMID: 34028087 Free PMC article.

6

Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families.

Wang R, Liu J, Yang X, Habulieti X, Yu X, Sun L, Zhang H, Sun Y, Ma D, Zhang X. Wang R, et al. Among authors: habulieti x. Front Genet. 2021 Jul 27;12:712275. doi: 10.3389/fgene.2021.712275. eCollection 2021. Front Genet. 2021. PMID: 34386043 Free PMC article.

7

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D, Zhang X. Wang R, et al. Among authors: habulieti x. Front Med. 2022 Oct;16(5):808-814. doi: 10.1007/s11684-021-0878-x. Epub 2022 Mar 21. Front Med. 2022. PMID: 35314946

8

Zwei neue Genmutationen verursachen unterschiedliche Ausprägungen der Epidermolysis bullosa bei chinesischen Patienten.

Habulieti X, Wang R, Liu J, Ma D, Zhang X. Habulieti X, et al. J Dtsch Dermatol Ges. 2021 Feb;19(2):271-273. doi: 10.1111/ddg.14278_g. J Dtsch Dermatol Ges. 2021. PMID: 33586905 German. No abstract available.

9

Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.

Liu W, Wei XX, Liu JW, Habulieti X, Yang ZY, Qian YT, Ma DL. Liu W, et al. Among authors: habulieti x. Clin Exp Dermatol. 2021 Mar;46(2):347-348. doi: 10.1111/ced.14355. Epub 2020 Aug 13. Clin Exp Dermatol. 2021. PMID: 32593192 No abstract available.

10

An unusual case of tertiary syphilis.

Ha-Bu-Lie-Ti XE, Wang LL, Zhu YL. Ha-Bu-Lie-Ti XE, et al. Clin Exp Dermatol. 2022 Apr;47(4):785-787. doi: 10.1111/ced.15066. Epub 2022 Jan 3. Clin Exp Dermatol. 2022. PMID: 34905227

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