Search research articles
Contact Us
Filters
Showing results (81-90 of 115) with videos related to
Page
of 12
Sort By:
The British Journal of Dermatology
|
July 25, 2025
A gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia
Lina Liang, Sheng Wang, Shimiao Huang, et al.
The Journal of Dermatology
|
September 9, 2016
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients
Eray Yihui Zhou, Huijun Wang, Zhimiao Lin, et al.
The Journal of Investigative Dermatology
|
April 12, 2022
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Fang Yang, Xingyuan Jiang, Yuhao Zhu, et al.
Experimental Neurology
|
January 24, 2009
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off
Jin-Sung Choi, Lili Zhang, Sulayman D Dib-Hajj, et al.
Clinical Genetics
|
November 13, 2022
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis
Xuan Wang, Jun Liu, Junyi Chen, et al.
The British Journal of Dermatology
|
February 19, 2025
Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis
Zijuan Wang, Jun Liu, Oded Wechsberg, et al.
Brain : a Journal of Neurology
|
April 17, 2009
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation
Chongyang Han, Sulayman D Dib-Hajj, Zhimiao Lin, et al.
The Journal of Dermatology
|
November 1, 2022
Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients
Juan Liu, Zhiming Chen, Linghan Hu, et al.
Orphanet Journal of Rare Diseases
|
September 1, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
Bin Zhang, Rui He, Zigang Xu, et al.
The Journal of Clinical Investigation
|
February 5, 2026
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport
Zeqiao Zhang, Shimiao Huang, Adam Jackson, et al.
Page
of 12
Search research articles
Search
Showing results (81-90 of 115) with videos related to
Sort By:
Page
of 12
The British Journal of Dermatology
|
July 25, 2025
A gain-of-function variant in NNT causes premature diffuse familial sebaceous hyperplasia
Lina Liang, Sheng Wang, Shimiao Huang, et al.
The Journal of Dermatology
|
September 9, 2016
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients
Eray Yihui Zhou, Huijun Wang, Zhimiao Lin, et al.
The Journal of Investigative Dermatology
|
April 12, 2022
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Fang Yang, Xingyuan Jiang, Yuhao Zhu, et al.
Experimental Neurology
|
January 24, 2009
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off
Jin-Sung Choi, Lili Zhang, Sulayman D Dib-Hajj, et al.
Clinical Genetics
|
November 13, 2022
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis
Xuan Wang, Jun Liu, Junyi Chen, et al.
The British Journal of Dermatology
|
February 19, 2025
Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis
Zijuan Wang, Jun Liu, Oded Wechsberg, et al.
Brain : a Journal of Neurology
|
April 17, 2009
Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation
Chongyang Han, Sulayman D Dib-Hajj, Zhimiao Lin, et al.
The Journal of Dermatology
|
November 1, 2022
Investigation of Nagashima-type palmoplantar keratoderma in China: A cross-sectional study of 234 patients
Juan Liu, Zhiming Chen, Linghan Hu, et al.
Orphanet Journal of Rare Diseases
|
September 1, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
Bin Zhang, Rui He, Zigang Xu, et al.
The Journal of Clinical Investigation
|
February 5, 2026
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport
Zeqiao Zhang, Shimiao Huang, Adam Jackson, et al.
Page
of 12