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

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

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

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

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

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

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

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

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

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