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1 . Academic Journal
Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families
저자
by
Rongrong Wang
;
Jiawei Liu
;
Xueting Yang
;
Xiaerbati Habulieti
;
Xue Yu
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families
저자
by
Liwei Sun
;
Amjad Khan
;
Han Zhang
;
Shirui Han
;
Xiaerbati Habulieti
, et al.
소스
Frontiers in Pediatrics, Vol 8 (2020)
Open Access (DOAJ)
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7 . Academic Journal
A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome
저자
by
Xue Yu
;
Rong-Rong Wang
;
Shi-Rui Han
;
Xiao Bai
;
Xiaerbati Habulieti
, et al.
소스
Chinese Medical Journal, Vol 132, Iss 14, Pp 1755-1757 (2019)
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7 . Academic Journal
2个黑棘皮病家系的遗传学分析 / Genetic analysis of two Chinese families with acanthosis nigricans
저자
by
余雪
;
张学
;
马东来
;
王蓉蓉
;
刘佳玮
, et al.
소스
广西医科大学学报 / Journal of Guangxi Medical University
. 36(5):815-818
Find it @ DONGA
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7 .
Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families
저자
by
Rongrong Wang
;
Liwei Sun
;
Xiaerbati Habulieti
;
Jiawei Liu
;
Kexin Guo
, et al.
소스
Frontiers of Medicine
. 16:808-814
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7 .
A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants
저자
by
Xiaerbati Habulieti
;
Kexin Guo
;
Jiawei Liu
;
Rongrong Wang
;
Dong‐Lai Ma
, et al.
소스
Experimental dermatologyREFERENCES
.
Full Text (Wiley)
Scopus
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7 .
Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families
저자
by
Xiaerbati Habulieti
;
Rongrong Wang
;
Xue Zhang
;
Jia-Wei Liu
;
Kexin Guo
, et al.
소스
Science China Life Sciences
. 64:2206-2209
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7 .
Zwei neue Genmutationen verursachen unterschiedliche Ausprägungen der Epidermolysis bullosa bei chinesischen Patienten
저자
by
Xiaerbati Habulieti
;
Jiawei Liu
;
Rongrong Wang
;
Dong-Lai Ma
;
Xue Zhang
.
소스
JDDG: Journal der Deutschen Dermatologischen Gesellschaft
. 19:271-273
Web of Science
Scopus
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7 .
Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families
저자
by
Xue Zhang
;
Xiaerbati Habulieti
;
Xue Yu
;
Han Zhang
;
Rongrong Wang
, et al.
소스
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
Open Access (OpenAIRE)
Scopus
JCR 저널정보
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7 .
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria
저자
by
Dong-Lai Ma
;
Jia-Wei Liu
;
Xue Zhang
;
Xiaerbati Habulieti
;
Rongrong Wang
.
소스
Journal of Clinical Laboratory Analysis
Open Access (Wiley)
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