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Clinical and Experimental Dermatology
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June 24, 2026
Cutaneous features of SDR9C7 variants in eight subjects with autosomal recessive nonsyndromic epidermal differentiation disorders
Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang, et al.
Journal of the American Academy of Dermatology
|
September 15, 2024
Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database
Kaya L Curtis, Caroline Echeandia-Francis, Julianne M Falotico, et al.
American Journal of Human Genetics
|
June 10, 2020
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Lynn M Boyden, Jing Zhou, Ronghua Hu, et al.
JAMA Dermatology
|
March 4, 2026
Validation of the Ectropion Severity Score in Epidermal Differentiation Disorders
Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang, et al.
Pediatric Dermatology
|
April 21, 2012
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred
Catherine S Yang, Yin Lu, Anita Farhi, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 4, 2025
A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma
Xingyuan Jiang, Ryland D Mortlock, Nathalie Pironon, et al.
The Journal of Clinical Investigation
|
March 17, 2015
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Keith A Choate, Yin Lu, Jing Zhou, et al.
The Journal of Investigative Dermatology
|
October 17, 2014
Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) conference
Dawn H Siegel, Keith A Choate, Beth A Drolet, et al.
American Journal of Human Genetics
|
August 2, 2016
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Young H Lim, Antonella Bacchiocchi, Jingyao Qiu, et al.
The Journal of Investigative Dermatology
|
November 15, 2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Lynn M Boyden, Brittany G Craiglow, Jing Zhou, et al.
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of 12
Search research articles
Search
Showing results (81-90 of 115) with videos related to
Sort By:
Page
of 12
Clinical and Experimental Dermatology
|
June 24, 2026
Cutaneous features of SDR9C7 variants in eight subjects with autosomal recessive nonsyndromic epidermal differentiation disorders
Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang, et al.
Journal of the American Academy of Dermatology
|
September 15, 2024
Retrospective analysis of nail findings in the National Registry for Ichthyosis and Related Disorders database
Kaya L Curtis, Caroline Echeandia-Francis, Julianne M Falotico, et al.
American Journal of Human Genetics
|
June 10, 2020
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Lynn M Boyden, Jing Zhou, Ronghua Hu, et al.
JAMA Dermatology
|
March 4, 2026
Validation of the Ectropion Severity Score in Epidermal Differentiation Disorders
Caroline Echeandia-Francis, Angela J Luo, Xingyuan Jiang, et al.
Pediatric Dermatology
|
April 21, 2012
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred
Catherine S Yang, Yin Lu, Anita Farhi, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 4, 2025
A recurrent de novo damaging variant in <i>EMP2</i> causes progressive symmetric erythrokeratoderma
Xingyuan Jiang, Ryland D Mortlock, Nathalie Pironon, et al.
The Journal of Clinical Investigation
|
March 17, 2015
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Keith A Choate, Yin Lu, Jing Zhou, et al.
The Journal of Investigative Dermatology
|
October 17, 2014
Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) conference
Dawn H Siegel, Keith A Choate, Beth A Drolet, et al.
American Journal of Human Genetics
|
August 2, 2016
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Young H Lim, Antonella Bacchiocchi, Jingyao Qiu, et al.
The Journal of Investigative Dermatology
|
November 15, 2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Lynn M Boyden, Brittany G Craiglow, Jing Zhou, et al.
Page
of 12