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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

British journal of dermatology (1951), 2015-05, Vol.172 (5), p.1407-1411

2015

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Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

British journal of dermatology (1951), 2015-02, Vol.172 (2), p.527-531

2015

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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

British journal of dermatology (1951), 2015-11, Vol.173 (5), p.1291-1294

2015

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

British journal of dermatology (1951), 2008-04, Vol.158 (4), p.864-867

2008

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Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

British journal of dermatology (1951), 2015-01, Vol.172 (1), p.94-100

2015

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Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

British journal of dermatology (1951), 2015-02, Vol.172 (2), p.527-531

2015

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Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

British journal of dermatology (1951), 2015-05, Vol.172 (5), p.1407-1411

2015

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Mutations in EXPH5 result in autosomal recessive inherited skin fragility

British journal of dermatology (1951), 2014-01, Vol.170 (1), p.196-199

2014

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The ethics of research related to health care in developing countries

Journal of medical ethics, 2004-04, Vol.30 (2), p.204-206

2004

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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Muscle & nerve, 2007-01, Vol.35 (1), p.24-35

2007

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Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

British journal of dermatology (1951), 2008-01, Vol.158 (1), p.191-194

2008

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A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

British journal of dermatology (1951), 2006-11, Vol.155 (5), p.1064-1066

2006

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Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

British journal of dermatology (1951), 2008-04, Vol.158 (4), p.864-867

2008

Volltextzugriff (PDF)

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis: Harlequin ichthyosis and ABCA12 mutation

British journal of dermatology (1951), 2006-11, Vol.155 (5), p.1064-1066

2006

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Gap junction development in the human fetal hair follicle and bulge region

British journal of dermatology (1951), 2004-03, Vol.150 (3), p.429-434

2004

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Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

British journal of dermatology (1951), 1997-12, Vol.137 (6), p.898-906

1997

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Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

British journal of dermatology (1951), 1997-12, Vol.137 (6), p.898-906

1997

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Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

British journal of dermatology (1951), 1997, Vol.136 (6), p.817-822

1997

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Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

British journal of dermatology (1951), 1997-06, Vol.136 (6), p.817-822

1997

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Hemidesmosome adhesion complexes in human skin development and disease (BL)

McMillan, J.R

1997

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Cold-Water Fishes and Climate Change in North America

Encyclopedia of the Anthropocene, 2018, p.103-111

2018

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Cold-Water Fishes and Climate Change in North America

Reference Module in Earth Systems and Environmental Sciences, 2013

2013

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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

British Journal of Dermatology, 2015, Vol.172 (5), p.1407-1411

2015

Volltextzugriff (PDF)

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

British Journal of Dermatology, 2014, Vol.170 (1), p.196-199

2014

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Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

The ethics of research related to health care in developing countries

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis: Harlequin ichthyosis and ABCA12 mutation

Gap junction development in the human fetal hair follicle and bulge region

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

Hemidesmosome adhesion complexes in human skin development and disease (BL)

Cold-Water Fishes and Climate Change in North America

Cold-Water Fishes and Climate Change in North America

Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

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