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Alopecia Areata and Universalis in the Smyth Chicken Model for Spontaneous Autoimmune Vitiligo

The Journal of investigative dermatology symposium proceedings, 1999-12, Vol.4 (3), p.211-215

1999

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A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization

PloS one, 2014-05, Vol.9 (5), p.e98122

2014

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Childhood porphyrias: implications and treatments

Clinical chemistry (Baltimore, Md.), 1993-06, Vol.39 (6), p.1334-1340

1993

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Collagen VII and bullous disorders of the skin

Dermatology (Basel), 1994-01, Vol.189 Suppl 2 (2), p.16-20

Bruckner-Tuderman, L

1994

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Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Human molecular genetics, 2019-09, Vol.28 (18), p.3148-3160

2019

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Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

Nature genetics, 2008-11, Vol.40 (11), p.1313-1318

2008

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The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa

Experimental dermatology, 2013-02, Vol.22 (2), p.88-92

2013

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Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa

Journal of investigative dermatology, 1999-12, Vol.113 (6), p.1114-1118

1999

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Connective tissue disorders and eye: A review and recent updates

Indian journal of ophthalmology, 2023-06, Vol.71 (6), p.2385-2398

2023

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Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2015-03, Vol.169C (1), p.6-22

2015

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Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

Genomics (San Diego, Calif.), 2004-03, Vol.83 (3), p.461-472

2004

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Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification

Matrix biology, 2014-01, Vol.33, p.23-28

2014

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Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Experimental dermatology, 2008-03, Vol.17 (3), p.203-207

2008

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Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse

Carcinogenesis (New York), 1998-02, Vol.19 (2), p.337-346

1998

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The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Journal of allergy and clinical immunology, 2012-08, Vol.130 (2), p.427-434.e6

2012

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Efficient variance components analysis across millions of genomes

Nature communications, 2020-08, Vol.11 (1), p.4020-4020, Article 4020

2020

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Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.233-236

2013

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Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

American journal of medical genetics, 1998-04, Vol.77 (1), p.31-37

1998

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Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Journal of medical genetics, 2006-08, Vol.43 (8), p.641-652

2006

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Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

Matrix biology, 2018-10, Vol.71-72, p.313-329

2018

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Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms

Annals of medicine (Helsinki), 1994, Vol.26 (3), p.165-171

Bruckner-tuderman, Leena

1994

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Epidermolysis Bullosa with Pyloric Atresia

Dermatologic clinics, 2010, Vol.28 (1), p.43-54

2010

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Familial prostate cancer from the Family-Cancer Database

European journal of cancer (1990), 2000-01, Vol.36 (2), p.229-234

2000

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Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

PLoS genetics, 2010-09, Vol.6 (9), p.e1001139-e1001139

2010

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Genetic parameters of insect bite hypersensitivity in Dutch Friesian broodmares

Journal of animal science, 2011-05, Vol.89 (5), p.1286

2011

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Alopecia Areata and Universalis in the Smyth Chicken Model for Spontaneous Autoimmune Vitiligo

A Bayesian method to incorporate hundreds of functional characteristics with association evidence to improve variant prioritization

Childhood porphyrias: implications and treatments

Collagen VII and bullous disorders of the skin

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits

The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa

Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa

Connective tissue disorders and eye: A review and recent updates

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification

Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder - a preliminary study

Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse

The effect of parental allergy on childhood allergic diseases depends on the sex of the child

Efficient variance components analysis across millions of genomes

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone

Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms

Epidermolysis Bullosa with Pyloric Atresia

Familial prostate cancer from the Family-Cancer Database

Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits

Genetic parameters of insect bite hypersensitivity in Dutch Friesian broodmares

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