Xiaerbati Habulieti

State Key Laboratory Of Medical Molecular Biology, School Of Basic Medicine Peking Union Medical College
Beijing, China

Last Updated: 09/26/2026

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Found 11 publications

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5.

Journal: Frontiers of medicine

Published: December 08, 2022

A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants.

A compound heterozygous Chinese patient with xeroderma pigmentosum variant type caused by novel POLH variants.

Journal: Experimental dermatology

Published: November 22, 2021

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

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

Journal: Frontiers in genetics

Published: May 20, 2021

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Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: February 15, 2021

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

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

Journal: Frontiers of medicine

Published: February 01, 2021

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

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

Journal: Science China. Life sciences

Published: December 14, 2020

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

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

Journal: Journal of clinical laboratory analysis

Published: December 01, 2020

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

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

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: October 08, 2020

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

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

Journal: Frontiers in pediatrics

Published: July 19, 2020

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

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

Journal: Clinical and experimental dermatology

Published: March 03, 2020

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

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

Journal: Chinese medical journal

Published: July 02, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026