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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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Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A

Clinical and experimental dermatology, 2021-07, Vol.46 (5), p.990-992

2021

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Site promiscuity of coliphage HK022 integrase as a tool for gene therapy

Gene therapy, 2015-07, Vol.22 (7), p.521-527

2015

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PLACK syndrome shows remarkable phenotypic homogeneity

Clinical and experimental dermatology, 2019-07, Vol.44 (5), p.580-583

2019

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Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

British journal of dermatology (1951), 2018-09, Vol.179 (3), p.755-757

2018

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Site promiscuity of coliphage HK022 integrase as tool for gene therapy

Gene therapy, 2015-07, Vol.22 (7), p.602-602

2015

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Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Clinical and experimental dermatology, 2018-03, Vol.43 (2), p.187-190

2018

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Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

British journal of dermatology (1951), 2018-06, Vol.178 (6), p.1455-1457

2018

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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

Volltextzugriff (PDF)

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 novel homozygous deletion in EXPH5 causes a skin fragility phenotype

Clinical and experimental dermatology, 2016-12, Vol.41 (8), p.915-918

2016

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773 Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

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

2018

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Erratum: Site promiscuity of coliphage HK022 integrase as tool for gene therapy

Gene therapy, 2015-07, Vol.22 (7), p.602-602

2015

Volltextzugriff (PDF)

379 Recessive epidermolytic ichthyosis results from loss of KRT10 expression, regardless of the mutation location

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

2016

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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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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774 Focal facial dermal dysplasia type I caused by a duplication on 1p36.22

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

2018

Volltextzugriff (PDF)

SVEP1 plays a crucial role in epidermal differentiation

Experimental dermatology, 2017-05, Vol.26 (5), p.423-430

2017

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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

Volltextzugriff (PDF)

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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381 Epidermolytic ichthyosis sine epidermolysis

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

2016

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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

Volltextzugriff (PDF)

372 CAPN12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

Journal of investigative dermatology, 2016-05, Vol.136 (5), p.S66-S66

2016

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

Atypical presentation of laryngo‐onycho‐cutaneous syndrome resulting from novel mutations in LAMA3A

Site promiscuity of coliphage HK022 integrase as a tool for gene therapy

PLACK syndrome shows remarkable phenotypic homogeneity

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

Site promiscuity of coliphage HK022 integrase as tool for gene therapy

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

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 novel homozygous deletion in EXPH5 causes a skin fragility phenotype

773 Striate palmoplantar keratoderma resulting from a missense mutation in DSG1

Erratum: Site promiscuity of coliphage HK022 integrase as tool for gene therapy

379 Recessive epidermolytic ichthyosis results from loss of KRT10 expression, regardless of the mutation location

770 An exceptional mutation in ALX4 results in ectodermal defects

775 A new 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

769 Filaggrin 2 deficiency causes generalized peeling of the skin

774 Focal facial dermal dysplasia type I caused by a duplication on 1p36.22

SVEP1 plays a crucial role in epidermal differentiation

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

381 Epidermolytic ichthyosis sine epidermolysis

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

372 CAPN12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

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