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The British Journal of Dermatology
|
January 23, 2023
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder
Zhuoqing Gong, Shangzhi Dai, Xingyuan Jiang, et al.
Pediatric Dermatology
|
April 21, 2010
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation
Zhe Xu, Lixin Zhang, Yuanyuan Xiao, et al.
European Journal of Dermatology : EJD
|
August 28, 2024
Symmetrical acral keratoderma associated with new variants in the filaggrin gene
Wanting Luo, Qiaoyun Lu, Yangyang Jiang, et al.
The Journal of Dermatology
|
April 11, 2026
Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect
Yunran Peng, Yang Guan, Kunlun Lv, et al.
Frontiers in Cellular and Infection Microbiology
|
June 10, 2025
A novel loss-of-function variant in <i>STAT1</i> causes Mendelian susceptibility to mycobacterial disease
Kunlun Lv, Zhuoqing Gong, Yiting Fu, et al.
The Journal of Allergy and Clinical Immunology
|
December 19, 2012
Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis
Xiaowen Wang, Zhimiao Lin, Lujuan Gao, et al.
Molecular Pain
|
February 10, 2018
TRPV1 gain-of-function mutation impairs pain and itch sensations in mice
Lina Duo, Linghan Hu, Naxi Tian, et al.
Hereditas
|
June 2, 2021
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway
Wei Yan, Bin Zhang, Huijun Wang, et al.
Biochemical and Biophysical Research Communications
|
February 5, 2013
A new Nav1.7 mutation in an erythromelalgia patient
Mark Estacion, Yang Yang, Sulayman D Dib-Hajj, et al.
Clinical and Experimental Dermatology
|
February 14, 2023
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1
Ruzeng Xue, Qing Cheng, Ming Li, et al.
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Search research articles
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Showing results (61-70 of 115) with videos related to
Sort By:
Page
of 12
The British Journal of Dermatology
|
January 23, 2023
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder
Zhuoqing Gong, Shangzhi Dai, Xingyuan Jiang, et al.
Pediatric Dermatology
|
April 21, 2010
A case of Hailey-Hailey disease in an infant with a new ATP2C1 gene mutation
Zhe Xu, Lixin Zhang, Yuanyuan Xiao, et al.
European Journal of Dermatology : EJD
|
August 28, 2024
Symmetrical acral keratoderma associated with new variants in the filaggrin gene
Wanting Luo, Qiaoyun Lu, Yangyang Jiang, et al.
The Journal of Dermatology
|
April 11, 2026
Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect
Yunran Peng, Yang Guan, Kunlun Lv, et al.
Frontiers in Cellular and Infection Microbiology
|
June 10, 2025
A novel loss-of-function variant in <i>STAT1</i> causes Mendelian susceptibility to mycobacterial disease
Kunlun Lv, Zhuoqing Gong, Yiting Fu, et al.
The Journal of Allergy and Clinical Immunology
|
December 19, 2012
Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis
Xiaowen Wang, Zhimiao Lin, Lujuan Gao, et al.
Molecular Pain
|
February 10, 2018
TRPV1 gain-of-function mutation impairs pain and itch sensations in mice
Lina Duo, Linghan Hu, Naxi Tian, et al.
Hereditas
|
June 2, 2021
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway
Wei Yan, Bin Zhang, Huijun Wang, et al.
Biochemical and Biophysical Research Communications
|
February 5, 2013
A new Nav1.7 mutation in an erythromelalgia patient
Mark Estacion, Yang Yang, Sulayman D Dib-Hajj, et al.
Clinical and Experimental Dermatology
|
February 14, 2023
A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1
Ruzeng Xue, Qing Cheng, Ming Li, et al.
Page
of 12