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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.502-508

2018

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Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

British journal of dermatology (1951), 2018-04, Vol.178 (4), p.986-986

2018

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Molecular epidemiology of pachyonychia congenita in the Israeli population

Clinical and experimental dermatology, 2021-06, Vol.46 (4), p.663-668

2021

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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e160-e160

2018

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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e177-e177

2018

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A prospective study on clinical response and cell-mediated immunity of pemphigus patients treated with rituximab

Archives of Dermatological Research, 2014, Vol.306 (1), p.67-74

2014

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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Acta dermato-venereologica, 2016-11, Vol.96 (7), p.885-887

2016

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Recurrent flexural pellagroid dermatitis: an unusual variant of irritant contact dermatitis

Acta dermato-venereologica, 2015-01, Vol.95 (1), p.116-117

2015

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LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma

Journal of investigative dermatology, 2024-08, Vol.144 (8), p.S164-S164

2024

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259 KLF4 variants: a novel cause of palmoplantar keratoderma

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S225-S225

2022

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259 Coagulation factor XIII-A subunit missense mutation in the pathobiology of autosomal dominant multiple dermatofibromas

Journal of investigative dermatology, 2020-07, Vol.140 (7), p.S31-S31

2020

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775 A new phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S132-S132

2018

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770 An exceptional mutation in ALX4 results in ectodermal defects

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S131-S131

2018

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由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林-德戈斯(Dowling-Degos)病的表现型

British journal of dermatology (1951), 2018-02, Vol.178 (2), p.e177-e177

2018

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769 Filaggrin 2 deficiency causes generalized peeling of the skin

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S131-S131

2018

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378 Somatic mosaicism for the “lethal” GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement

Journal of investigative dermatology, 2016-05, Vol.136 (5), p.S67-S67

2016

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283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S48-S48

2018

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073 Molecular epidemiology of epidermolysis bullosa in a Middle Eastern population

Journal of investigative dermatology, 2021-10, Vol.141 (10), p.S161-S161

2021

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Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Yearbook of Paediatric Endocrinology, 2021-09

2021

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Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases

Dermatologic clinics, 2011-10, Vol.29 (4), p.555-559

2011

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381 Epidermolytic ichthyosis sine epidermolysis

Journal of investigative dermatology, 2016-05, Vol.136 (5), p.S67-S67

2016

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Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases

Immunology and allergy clinics of North America, 2012-05, Vol.32 (2), p.309-315

2012

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414 A new form of ectodermal dysplasia caused by mutations in TSPEAR

Journal of investigative dermatology, 2016-05, Vol.136 (5), p.S73-S73

2016

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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.744-755

2023

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Epidermolytic Ichthyosis Sine Epidermolysis

The American journal of dermatopathology, 2017-06, Vol.39 (6), p.440-444

2017

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A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

Novel POFUT1 mutation associated with hidradenitis suppurativa–Dowling–Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors

Molecular epidemiology of pachyonychia congenita in the Israeli population

A phenotype combining hidradenitis suppurativa with Dowling–Degos disease caused by a founder mutation in PSENEN

由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林‐德戈斯(Dowling–Degos)病的表现型

A prospective study on clinical response and cell-mediated immunity of pemphigus patients treated with rituximab

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Recurrent flexural pellagroid dermatitis: an unusual variant of irritant contact dermatitis

LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma

259 KLF4 variants: a novel cause of palmoplantar keratoderma

259 Coagulation factor XIII-A subunit missense mutation in the pathobiology of autosomal dominant multiple dermatofibromas

775 A new phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN

770 An exceptional mutation in ALX4 results in ectodermal defects

由PSENEN始祖突变引起的结合了化脓性汗腺炎与道林-德戈斯(Dowling-Degos)病的表现型

769 Filaggrin 2 deficiency causes generalized peeling of the skin

378 Somatic mosaicism for the “lethal” GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement

283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population

073 Molecular epidemiology of epidermolysis bullosa in a Middle Eastern population

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy

Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases

381 Epidermolytic ichthyosis sine epidermolysis

Mycophenolate Mofetil for the Management of Autoimmune Bullous Diseases

414 A new form of ectodermal dysplasia caused by mutations in TSPEAR

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

Epidermolytic Ichthyosis Sine Epidermolysis

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