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Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia

Journal of investigative dermatology, 2019-05, Vol.139 (5), p.1089-1097

2019

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Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

Journal of investigative dermatology, 2022-10, Vol.142 (10), p.2687-2694.e2

2022

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

American journal of human genetics, 2020-07, Vol.107 (1), p.34-45

2020

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Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization

Journal of dermatological science, 2020-04, Vol.98 (1), p.35-40

2020

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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Human molecular genetics, 2015-01, Vol.24 (1), p.243-250

2015

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Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

American journal of human genetics, 2012-11, Vol.91 (5), p.906-911

2012

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Epidermolysis Bullosa Pruriginosa Treated With Baricitinib

JAMA dermatology (Chicago, Ill.), 2021-10, Vol.157 (10), p.1243

2021

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Personalizing head-related transfer functions using anthropometric measurements by combining two machine-learning models

The Journal of the Acoustical Society of America, 2019-03, Vol.145 (3), p.1883-1884

2019

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Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder

British journal of dermatology (1951), 2023-01, Vol.188 (1), p.100-111

2023

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A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study

Journal of the American Academy of Dermatology, 2022-09, Vol.87 (3), p.698-700

2022

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A novel KRT16 frameshift variant causing pachyonychia congenita by re‐initiation of translation

Journal of the European Academy of Dermatology and Venereology, 2023-02, Vol.37 (2), p.e166-e168

2023

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Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome

Journal of investigative dermatology, 2021-03, Vol.141 (3), p.545-554

2021

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Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf

JAMA dermatology (Chicago, Ill.), 2015-09, Vol.151 (9), p.1032

2015

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Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

American journal of human genetics, 2012-03, Vol.90 (3), p.558-564

2012

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Personalized Head-Related Transfer Function from Anthropometric Features Using Two Machine Learning Models: Approach and Subjective Validation

Lee, MingYang

2020

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Semidominant Inheritance in Olmsted Syndrome

Journal of investigative dermatology, 2016-08, Vol.136 (8), p.1722-1725

2016

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Gain-Of-Function Mutationsin TRPM4 Activation Gate Cause Skin Disease PSEK

Biophysical journal, 2019-02, Vol.116 (3), p.452a-452a

2019

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Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Human molecular genetics, 2015-11, Vol.24 (22), p.6564-6564

2015

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ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement

Acta dermato-venereologica, 2015-01, Vol.95 (1), p.112-113

2015

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Semidominant Inheritance in Olmsted Syndrome

The Journal of investigative dermatology, 2016, Vol.136 (8), p.1722-1725

2016

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Overview of Artificial Intelligence Painting Development and Some Related Model Application

SHS Web of Conferences, 2023, Vol.167, p.1004

2023

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Physical activity and the risk of SARS-CoV-2 infection, severe COVID-19 illness and COVID-19 related mortality in South Korea: a nationwide cohort study

British journal of sports medicine, 2022-08, Vol.56 (16), p.901-912

2022

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In Situ Back‐Contact Passivation Improves Photovoltage and Fill Factor in Perovskite Solar Cells

Advanced materials (Weinheim), 2019-04, Vol.31 (14), p.e1807435-n/a

2019

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Histopathology images predict multi-omics aberrations and prognoses in colorectal cancer patients

Nature communications, 2023-04, Vol.14 (1), p.2102-2102, Article 2102

2023

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A Chemically Orthogonal Hole Transport Layer for Efficient Colloidal Quantum Dot Solar Cells

Advanced materials (Weinheim), 2020-04, Vol.32 (17), p.e1906199-n/a

2020

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Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia

Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

Epidermolysis Bullosa Pruriginosa Treated With Baricitinib

Personalizing head-related transfer functions using anthropometric measurements by combining two machine-learning models

Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder

A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study

A novel KRT16 frameshift variant causing pachyonychia congenita by re‐initiation of translation

Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome

Oral Acyclovir and Intralesional Interferon Injections for Treatment of Giant Pyogenic Granuloma-Like Lesions in an Immunocompromised Patient With Human Orf

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

Personalized Head-Related Transfer Function from Anthropometric Features Using Two Machine Learning Models: Approach and Subjective Validation

Semidominant Inheritance in Olmsted Syndrome

Gain-Of-Function Mutationsin TRPM4 Activation Gate Cause Skin Disease PSEK

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

ITGB4-associated junctional epidermolysis bullosa without pylori atresia but profound genito-urinary involvement

Semidominant Inheritance in Olmsted Syndrome

Overview of Artificial Intelligence Painting Development and Some Related Model Application

Physical activity and the risk of SARS-CoV-2 infection, severe COVID-19 illness and COVID-19 related mortality in South Korea: a nationwide cohort study

In Situ Back‐Contact Passivation Improves Photovoltage and Fill Factor in Perovskite Solar Cells

Histopathology images predict multi-omics aberrations and prognoses in colorectal cancer patients

A Chemically Orthogonal Hole Transport Layer for Efficient Colloidal Quantum Dot Solar Cells

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