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1
المؤلفون: Marcel F. Jonkman, B Nikolic, B Hoyheim, WP De Groot, CJ De Weerdt, D. Koss-Harnes, Gerhard Wiche, Tobias Gedde-Dahl
المساهمون: Translational Immunology Groningen (TRIGR)
المصدر: Acta dermato-venereologica, 84(2), 124-131. ACTA DERMATO-VENEREOLOGICA
مصطلحات موضوعية: Male, plectin, Genetic Linkage, nonsense mutation, Fluorescent Antibody Technique, HEMIDESMOSOMES, CYTOSKELETON, medicine.disease_cause, Severity of Illness Index, Muscular Dystrophies, Epidermolysis bullosa simplex, Intermediate Filament Proteins, DELETION MUTATIONS, Muscular dystrophy, RAT PLECTIN, Genes, Dominant, Genetics, Mutation, Norway, Reverse Transcriptase Polymerase Chain Reaction, Hemidesmosome, PREMATURE TERMINATION CODON, General Medicine, Pedigree, genotype-phenotype, DEFICIENCY, Phenotype, Epidermolysis bullosa, TISSUES, Blotting, Western, Molecular Sequence Data, Nonsense mutation, Dermatology, macromolecular substances, ORGANIZATION, Biology, Sampling Studies, CLONING, medicine, PLEC1, Humans, Point Mutation, Genetic Predisposition to Disease, Base Sequence, Siblings, Point mutation, EBS-MD, Plectin, medicine.disease, GENE, Epidermolysis Bullosa Simplex, Chronic Disease, plakins
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed48309939af7e53c75e6a540329b6d3
https://doi.org/10.1080/00015550310007094 -
2
المؤلفون: WP de Groot, FH Allen, PM Krook
المصدر: American Journal of Roentgenology. 132:136-137
مصطلحات موضوعية: medicine.diagnostic_test, Cysts, business.industry, Thyroid, Ultrasound, Lumen (anatomy), General Medicine, Anatomy, Middle Aged, medicine.disease, Thyroid Diseases, Carcinoma, Papillary, Benign cysts, Metastasis, Thyroid carcinoma, medicine.anatomical_structure, Biopsy, medicine, Humans, Female, Radiology, Nuclear Medicine and imaging, Cyst, Thyroid Neoplasms, business, Ultrasonography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61c00c0cd55aa4861c8f7825573ab6ea
https://doi.org/10.2214/ajr.132.1.136 -
3دورية أكاديمية
المؤلفون: Koss-Harnes D; Dermatological DNA Laboratory, Department of Dermatology, and Research Institute for Internal Medicine, Rikshospitalet University Hospital, Oslo, Norway. doeh@online.no, Høyheim B, Jonkman MF, de Groot WP, de Weerdt CJ, Nikolic B, Wiche G, Gedde-Dahl T Jr
المصدر: Acta dermato-venereologica [Acta Derm Venereol] 2004; Vol. 84 (2), pp. 124-31.
نوع المنشور: Comparative Study; Journal Article
بيانات الدورية: Publisher: MJS Publishing Country of Publication: Sweden NLM ID: 0370310 Publication Model: Print Cited Medium: Print ISSN: 0001-5555 (Print) Linking ISSN: 00015555 NLM ISO Abbreviation: Acta Derm Venereol Subsets: MEDLINE
مواضيع طبية MeSH: Genes, Dominant* , Genetic Predisposition to Disease* , Point Mutation*, Epidermolysis Bullosa Simplex/*genetics , Intermediate Filament Proteins/*genetics , Muscular Dystrophies/*genetics, Base Sequence ; Blotting, Western ; Chronic Disease ; Epidermolysis Bullosa Simplex/complications ; Epidermolysis Bullosa Simplex/pathology ; Fluorescent Antibody Technique ; Genetic Linkage ; Humans ; Male ; Molecular Sequence Data ; Muscular Dystrophies/complications ; Muscular Dystrophies/pathology ; Norway ; Pedigree ; Phenotype ; Plectin ; Reverse Transcriptase Polymerase Chain Reaction ; Sampling Studies ; Severity of Illness Index ; Siblings
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4دورية أكاديمية
المؤلفون: Pope FM; Clinical Research Centre, Harrow, U.K., Nicholls AC, Palan A, Kwee ML, De Groot WP, Hausmann R
المصدر: The British journal of dermatology [Br J Dermatol] 1992 Jan; Vol. 126 (1), pp. 77-82.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Print ISSN: 0007-0963 (Print) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Ehlers-Danlos Syndrome/*genetics, Adult ; Collagen/ultrastructure ; Ehlers-Danlos Syndrome/pathology ; Family ; Female ; Humans ; Infant ; Male ; Microscopy, Electron ; Mutation ; Skin/ultrastructure
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5دورية أكاديمية
المؤلفون: de Groot WP; Swedish Hospital Medical Center, Seattle, Washington.
المصدر: The Journal of dermatologic surgery and oncology [J Dermatol Surg Oncol] 1991 Jul; Vol. 17 (7), pp. 589-95.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Elsevier [etc.] Country of Publication: United States NLM ID: 7707501 Publication Model: Print Cited Medium: Print ISSN: 0148-0812 (Print) Linking ISSN: 01480812 NLM ISO Abbreviation: J Dermatol Surg Oncol Subsets: MEDLINE
مواضيع طبية MeSH: Sclerotherapy/*methods , Varicose Veins/*therapy, Bandages ; Femoral Vein ; Humans ; Injections, Intravenous ; Patient Education as Topic ; Posture ; Saphenous Vein ; Sclerosing Solutions/administration & dosage ; Sclerosing Solutions/therapeutic use ; Time Factors ; Varicose Veins/classification
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6دورية أكاديمية
المؤلفون: Jöbsis AC, De Groot WP, Meijer AE, Van der Loos CM
المصدر: The British journal of dermatology [Br J Dermatol] 1983 May; Vol. 108 (5), pp. 567-72.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Print ISSN: 0007-0963 (Print) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Ichthyosis/*genetics , Leukocytes/*enzymology , Sulfatases/*metabolism, Adolescent ; Adult ; Aged ; Blood Chemical Analysis/methods ; Child ; Electrophoresis, Polyacrylamide Gel ; Female ; Genes, Recessive ; Humans ; Ichthyosis/blood ; Male ; Middle Aged ; Steryl-Sulfatase ; X Chromosome
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7دورية أكاديمية
المؤلفون: Leschot NJ, Treffers PE, Becker-Bloemkolk MJ, van Zanten S, de Groot WP, Verjaal M
المصدر: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 1980 Jul; Vol. 10 (6), pp. 381-8.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 0375672 Publication Model: Print Cited Medium: Print ISSN: 0301-2115 (Print) Linking ISSN: 03012115 NLM ISO Abbreviation: Eur J Obstet Gynecol Reprod Biol Subsets: MEDLINE
مواضيع طبية MeSH: Skin Abnormalities*, Abnormalities, Multiple/*diagnosis, Abnormalities, Multiple/genetics ; Amniocentesis ; Amniotic Fluid/analysis ; Duodenum/abnormalities ; Female ; Humans ; Infant, Newborn ; Intestinal Atresia/complications ; Male ; Pedigree ; Skin Diseases/genetics ; Translocation, Genetic ; alpha-Fetoproteins/analysis
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8دورية أكاديمية
المؤلفون: de Groot WP, Jobsis AC, Marinkovic-Ilsen A, Koppe JG, de Bruijn HW
المصدر: The British journal of dermatology [Br J Dermatol] 1980 Jul; Vol. 103 (1), pp. 73-9.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Print ISSN: 0007-0963 (Print) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE
مواضيع طبية MeSH: Ichthyosis/*genetics , Placenta/*enzymology , Sulfatases/*deficiency, Adult ; Arylsulfatases/deficiency ; Female ; Humans ; Ichthyosis/enzymology ; Infant, Newborn ; Male ; Pregnancy ; Sex Chromosome Aberrations ; Skin/enzymology ; X Chromosome
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9دورية أكاديمية
المؤلفون: Fleury P, Dingemans K, de Groot WP, Oranje AP, Voûte PA, Woerdeman MJ, Delleman JW, Oorthuys JW, Verboom AJ
المصدر: Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 1986; Vol. 88 (1), pp. 39-44.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7502039 Publication Model: Print Cited Medium: Print ISSN: 0303-8467 (Print) Linking ISSN: 03038467 NLM ISO Abbreviation: Clin Neurol Neurosurg Subsets: MEDLINE
مواضيع طبية MeSH: Abnormalities, Multiple/*pathology , Central Nervous System/*abnormalities , Nevus, Pigmented/*pathology , Pigmentation Disorders/*pathology , Skin Neoplasms/*pathology, Adolescent ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Microscopy, Electron ; Skin/pathology ; Syndrome
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10دورية أكاديمية
المؤلفون: Tytgat GN, Surachno S, de Groot WP, Schellekens PT
المصدر: Gastroenterology [Gastroenterology] 1977 Mar; Vol. 72 (3), pp. 536-40.
نوع المنشور: Case Reports; Journal Article
بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print Cited Medium: Print ISSN: 0016-5085 (Print) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE
مواضيع طبية MeSH: Immunity, Cellular*, Candidiasis/*complications , Candidiasis, Oral/*complications , Esophageal Diseases/*complications , Imidazoles/*therapeutic use , Immunologic Deficiency Syndromes/*complications , Miconazole/*therapeutic use , Pharyngeal Diseases/*complications, Adult ; Candidiasis/drug therapy ; Candidiasis, Oral/drug therapy ; Drug Resistance, Microbial ; Esophageal Diseases/drug therapy ; Humans ; Immunologic Deficiency Syndromes/drug therapy ; Male ; Nystatin/therapeutic use ; Pharyngeal Diseases/drug therapy