المؤلفون: Hiroshi Shimizu, Toshifumi Nomura, Neil J. Wilson, Moez Gribaa, Sébastien Teissier, Alan D. Irvine, Alan Evans, W.H. Irwin McLean, Sara J. Brown, Mohamed Denguezli, Ali Saad, Mohammad Shboul, Ons Mamaï, Christian Cole, Geoffrey J. Barton, M. Zamiri, John A. McGrath, Colin S. Munro, Jennifer Hirst, Patricia J.C. Dopping-Hepenstal, Frances J.D. Smith, Lobna Boussofara, Mitsuhiro Suehiro, Elizabeth Pohler, David Goudie, Benvon Moran, Bruno Reversade, H. M. Horn, Aileen Sandilands, Christabelle S M Goh, Izumi Konohana, Masashi Akiyama

المساهمون: Other departments

المصدر: Nature genetics
Nature genetics, 44(11), 1272-1276. Nature Publishing Group

مصطلحات موضوعية: Keratinocytes, congenital, hereditary, and neonatal diseases and abnormalities, Haploinsufficiency, Biology, Article, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Cytosol, Genetics, Humans, Epidermal growth factor receptor, skin and connective tissue diseases, 030304 developmental biology, 0303 health sciences, Gene knockdown, Cell growth, Chromosome Mapping, Proteins, Pedigree, Porokeratosis, ErbB Receptors, Adaptor Proteins, Vesicular Transport, Gene Expression Regulation, Cancer research, biology.protein, Carrier Proteins, Punctate palmoplantar keratoderma, HeLa Cells, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87a0e0e3b892675d1146fd9e86bd1469
https://doi.org/10.1038/ng.2444

المؤلفون: H. M. Horn, M.J. Tidman

المصدر: Clinical and Experimental Dermatology. 27:707-710

مصطلحات موضوعية: medicine.medical_specialty, EB simplex, business.industry, Dermatology, Dermatology Life Quality Index, medicine.disease, Postal questionnaire, Quality of life, Immunopathology, Epidemiology, Medicine, Epidermolysis bullosa, Severe psoriasis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::660a6d056e1251c0251cde6d5e1787a7
https://doi.org/10.1046/j.1365-2230.2002.01121.x

المؤلفون: M.J. Tidman, N. C. Hepburn, E. B. Lane, H. M. Horn, S. Keohane, D. J. Atherton, Carrie S. Shemanko, A.I.G. Kerr

المصدر: British Journal of Dermatology. 142:315-320

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, Mutation, Pathology, Keratin 14, integumentary system, business.industry, Point mutation, Dermatology, medicine.disease_cause, medicine.disease, Junctional epidermolysis bullosa (medicine), Keratin 5, Epidermolysis bullosa simplex, chemistry, Keratin, medicine, Epidermolysis bullosa, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dbe4489a3f9c9e7b72415f8c58961640
https://doi.org/10.1046/j.1365-2133.2000.03304.x

المؤلفون: J E, Mellerio, L, Pulkkinen, J R, McMillan, B D, Lake, H M, Horn, M J, Tidman, J I, Harper, J A, McGrath, J, Uitto, R A, Eady

المصدر: British Journal of Dermatology. 139:862-871

مصطلحات موضوعية: Male, Integrins, Pathology, medicine.medical_specialty, Dermatology, Biology, Compound heterozygosity, medicine.disease_cause, Exon, Antigens, CD, medicine, Humans, Missense mutation, Child, Pylorus, Skin, Mutation, Splice site mutation, Integrin beta4, Syndrome, medicine.disease, Pedigree, Child, Preschool, Atresia, Cancer research, Epidermolysis Bullosa, Junctional, Junctional epidermolysis bullosa (veterinary medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb5849d142aba9b0906a45a7d73a05c
https://doi.org/10.1046/j.1365-2133.1998.02515.x

المؤلفون: G. H. S. Ashton, H. M. Horn, Julio C. Salas-Alanis, Robin A.J. Eady, John A. McGrath, M.J. Tidman, M. L. Talamantes, Jemima E. Mellerio

المصدر: British Journal of Dermatology. 139:730-737

مصطلحات موضوعية: Genetics, Dystrophic epidermolysis bullosa, Mutation, Exon, Type VII collagen, Point mutation, Glycine, medicine, Dermatology, Biology, medicine.disease_cause, Dominant dystrophic epidermolysis bullosa, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::39d97e9bf99210a0889d7bab465f569e
https://doi.org/10.1046/j.1365-2133.1998.02496.x

المؤلفون: G.C. Priestley, Robin A.J. Eady, H. M. Horn, M.J. Tidman

المصدر: British Journal of Dermatology. 136:560-564

مصطلحات موضوعية: Grande bretagne, medicine.medical_specialty, High prevalence, EB simplex, business.industry, Prevalence, Dermatology, medicine.disease, Surgery, Immunopathology, Epidemiology, medicine, Epidermolysis bullosa, business, Royaume uni

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99142edd641b30d359be5ad2d44f233b
https://doi.org/10.1046/j.1365-2133.1997.d01-1235.x

المؤلفون: Gareth Magee, E. Birgitte Lane, Frances J.D. Smith, Neil J. Wilson, Carrie S. Shemanko, Alison J. M. Hill, E.L. Rugg, M.J. Tidman, D. Baty, H. M. Horn

المصدر: The Journal of investigative dermatology. 127(3)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Keratin 14, Adolescent, Population, Dermatology, medicine.disease_cause, Biochemistry, 030207 dermatology & venereal diseases, 03 medical and health sciences, Epidermolysis bullosa simplex, 0302 clinical medicine, Keratin, medicine, Humans, education, Child, Molecular Biology, 030304 developmental biology, Aged, Genetics, chemistry.chemical_classification, 0303 health sciences, education.field_of_study, Mutation, integumentary system, business.industry, Keratin-14, Infant, Cell Biology, Middle Aged, medicine.disease, Phenotype, 3. Good health, Keratin 5, Genetics, Population, chemistry, Scotland, Child, Preschool, Epidermolysis Bullosa Simplex, Keratin-5, Epidermolysis bullosa, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae440aa7a968dbbb84f1e9ba8a0041ea
https://pubmed.ncbi.nlm.nih.gov/17039244

المؤلفون: R. D. Aldridge, H M Horn, C Murray

المصدر: Contact dermatitis. 52(4)

مصطلحات موضوعية: Adult, Allergy, medicine.medical_specialty, business.industry, Hair Preparations, Dermatology, medicine.disease, chemistry.chemical_compound, Surface-Active Agents, chemistry, Glucosides, Contact allergy, Immunopathology, Immunology, Dermatitis, Allergic Contact, Immunology and Allergy, Medicine, Humans, Female, Decyl glucoside, business, Contact dermatitis, Allergic contact dermatitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04ab311633b006010117c61c4ba9d2f
https://pubmed.ncbi.nlm.nih.gov/15859997

المؤلفون: H. M. Horn, R. D. Aldridge

المصدر: Contact dermatitis. 49(3)

مصطلحات موضوعية: Nitrile, Urticaria, Dermatology, Hand Dermatoses, Nursing, Rubber chemicals, Diagnosis, Differential, chemistry.chemical_compound, Contact urticaria, Natural rubber, Nitriles, Immunology and Allergy, Organic chemistry, Medicine, Humans, business.industry, Allergens, Patch Tests, chemistry, Dermatitis, Occupational, visual_art, Dermatitis, Allergic Contact, visual_art.visual_art_medium, Female, business, Gloves, Protective

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7db4ee0f1055506fac1363fb961a486
https://pubmed.ncbi.nlm.nih.gov/14678219

المؤلفون: H M, Horn, M J, Tidman

المصدر: Clinical and experimental dermatology. 27(8)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Adolescent, Infant, Middle Aged, Health Surveys, Scotland, Child, Preschool, Surveys and Questionnaires, Quality of Life, Humans, Female, Child, Epidermolysis Bullosa, Aged

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::da7a04029fe0c6d92ed83a2a88706ec7
https://pubmed.ncbi.nlm.nih.gov/12472552