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المؤلفون: Maurice A.M. van Steensel, Eli Sprecher, W.H. Irwin McLean, Michel van Geel, Arti Nanda, Marcel F. Jonkman, Jaap J A J van der Velden, John A. McGrath, Ruud G. L. Nellen, Andrew Cassidy
المساهمون: Translational Immunology Groningen (TRIGR), MUMC+: MA Dermatologie (9), Dermatologie, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy
المصدر: Experimental dermatology, 24(4), 285-289. Blackwell Publishing Ltd
Experimental Dermatology, 24(4), 285-289. Wileyمصطلحات موضوعية: Male, Pathology, Stratum granulosum, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, INDEL Mutation, Missense mutation, Child, Cells, Cultured, Netherlands, Mutation, integumentary system, ENCODING CYSTATIN-A, Recombinant Proteins, FAMILY, Europe, medicine.anatomical_structure, Kuwait, Child, Preschool, Female, TGM5, medicine.medical_specialty, In silico, Molecular Sequence Data, Mutation, Missense, Dermatology, Biology, Transfection, Skin Diseases, MISSENSE MUTATION, Stratum corneum, medicine, CSTA, Humans, Amino Acid Sequence, Molecular Biology, Gene, Transglutaminases, acral peeling skin syndrome, Sequence Homology, Amino Acid, Alternative splicing, Infant, GENE, Alternative Splicing, HEK293 Cells, Amino Acid Substitution, Mutant Proteins
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المؤلفون: Marcel F. Jonkman, P.M. Steijlen, Ivo F. Nagtzaam, A. Jeannette M. Hoogeboom, Ruud G. L. Nellen, Reno S. Bladergroen, Michel van Geel, Maurice A.M. van Steensel
المساهمون: Dermatology, Clinical Genetics, Dermatologie, MUMC+: MA Dermatologie (9), RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Translational Immunology Groningen (TRIGR)
المصدر: Experimental Dermatology, 24(11), 883-885. Wiley-Blackwell Publishing Ltd
Experimental Dermatology, 24(11), 883-885. Wiley
Experimental dermatology, 24(11), 883-885. Blackwell Publishing Ltdمصطلحات موضوعية: Genetics, Functional evaluation, medicine.medical_specialty, KERATIN 1, Hyperkeratosis, Dermatology, Biology, palmoplantar keratoderma, medicine.disease, Biochemistry, Phenotype, Palmoplantar keratoderma, Epidermolytic ichthyosis, Epidermolytic Ichthyosis, Mutation (genetic algorithm), medicine, KRT1, Molecular Biology, keratin
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المؤلفون: Jayadev Betkerur, P.M. Steijlen, Tijs Claessens, Ranugha Subramaniam, Michel van Geel, Ruud G. L. Nellen, Akila Prashanth
المساهمون: Dermatologie, MUMC+: MA Dermatologie (9), RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy
المصدر: Journal of Dermatological Science, 80(1), 76-78. Elsevier Ireland Ltd
مصطلحات موضوعية: Genetics, Dermatology, Biology, Biochemistry, Diffuse palmoplantar keratoderma, Indian subcontinent, RNA Splice Sites, SLURP1, Mutation (genetic algorithm), Mutation, In patient, Molecular Biology, Novel mutation, Mal de Meleda
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المؤلفون: Jorge Frank, Maaike Vreeburg, Ruud G. L. Nellen, Maurice A.M. van Steensel, Michel van Geel, P.M. Steijlen
المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Dermatologie (3), MUMC+: MA AIOS Dermatologie (9), MUMC+: MA Dermatologie (9), MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9)
المصدر: Human Mutation, 38(4), 343-356. Wiley
مصطلحات موضوعية: 0301 basic medicine, RETICULUM CA2+-ATPASE MUTANTS, Intracellular Space, Disease, computer.software_genre, medicine.disease_cause, 030207 dermatology & venereal diseases, 0302 clinical medicine, Darier Disease, Databases, Genetic, Missense mutation, CHINESE PATIENTS, Genetics (clinical), Skin, Mutation, CA2+ PUMP, Database, HUMAN INHERITED DISEASE, ATP2C1, 3. Good health, Hailey–Hailey disease, acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis, Pemphigus, Benign Familial, Hailey-Hailey disease, SPCA1, NEUROPSYCHIATRIC ASPECTS, Calcium-Transporting ATPases, Biology, genotype-phenotype correlation, Sarcoplasmic Reticulum Calcium-Transporting ATPases, 03 medical and health sciences, locus-specific database, MISSENSE MUTATION, ATP2A2, Genetics, medicine, Humans, ACROKERATOSIS VERRUCIFORMIS, Darier disease, CLINICAL-FEATURES, medicine.disease, ISRAEL COMBINED EVALUATION, CULTURED KERATINOCYTES, SERCA2, 030104 developmental biology, Calcium, Leiden Open Variation Database, computer
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المؤلفون: K. M. L. Huijbregts, Ruud G. L. Nellen, M. van Geel
المساهمون: Promovendi ODB, Dermatologie, MUMC+: MA Dermatologie (9), Genetica & Celbiologie, RS: FHML non-thematic output, RS: GROW - School for Oncology and Reproduction, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Psychiatry, EMGO - Mental health
المصدر: Nellen, R G L, Van Geel, M & Huijbregts, K M L 2016, ' Response to 'Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects' ', British Journal of Dermatology, vol. 175, no. 1, pp. 223-224 . https://doi.org/10.1111/bjd.14536
British Journal of Dermatology, 175(1), 223-224. Wiley
British Journal of Dermatology, 175(1), 223-224. Wiley-Blackwellمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Collaborative Care, Dermatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Darier Disease, ATP2A2, Humans, Medicine, Israel, business, Psychiatry, Depression (differential diagnoses)
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المصدر: Nederlands tijdschrift voor geneeskunde. 160
مصطلحات موضوعية: Male, Porphyria Cutanea Tarda, Iron Overload, Iron, Hepatitis C, Chronic, Middle Aged, Prognosis, Liver, Risk Factors, Mutation, Humans, Female, Hemochromatosis, Hemochromatosis Protein, Aged
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c323043e5199b4b12c87157515193f7b
https://pubmed.ncbi.nlm.nih.gov/26840933 -
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المؤلفون: Patricia Cramers, Rein Willemze, Ruud G. L. Nellen, Ymke G.L. de Graaf, Abdoel Elghalbzouri, Frank R. de Gruijl, Heggert Rebel, Jan Nico Bouwes Bavinck
المصدر: Experimental Dermatology. 17:349-355
مصطلحات موضوعية: Adult, Keratinocytes, Male, Pathology, medicine.medical_specialty, Skin Neoplasms, DNA Repair, Ultraviolet Rays, DNA repair, medicine.medical_treatment, Pyrimidine dimer, Azathioprine, Dermatology, Biology, Biochemistry, Immunocompromised Host, Mice, medicine, Animals, Humans, Molecular Biology, Aged, Mice, Hairless, Kidney, Immunosuppression, Middle Aged, Genes, p53, medicine.disease, Kidney Transplantation, Clone Cells, Transplantation, Cell Transformation, Neoplastic, medicine.anatomical_structure, Mutation, Carcinoma, Squamous Cell, Female, Epidermis, Skin cancer, Skin Carcinoma, Immunocompetence, Immunosuppressive Agents, medicine.drug
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المؤلفون: M. van Geel, D. Marcus-Soekarman, M. Devies, Maaike Vreeburg, E.A. de Zwart-Storm, Ruud G. L. Nellen, M.A.M. van Steensel, M.I. Schouten
المصدر: American Journal of Medical Genetics Part A. :360-363
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Hyperkeratosis, Limb Deformities, Congenital, Connexin, Oculodentodigital dysplasia, Biology, medicine.disease_cause, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Keratoderma, Genetics (clinical), Sequence Deletion, Mutation, integumentary system, Tooth Abnormalities, Keratosis, medicine.disease, Dyskeratosis, Phenotype, Palmoplantar keratoderma, Dysplasia, Connexin 43, Skin Abnormalities, Female, Syndactyly
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المساهمون: MUMC+: MA Dermatologie (9), Dermatologie, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy
المصدر: Journal of the European Academy of Dermatology and Venereology, 29(8), 1641-1642. Wiley
مصطلحات موضوعية: medicine.medical_specialty, Infectious Diseases, Darier Disease, business.industry, medicine, Dermatology, business, Phenotype
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المؤلفون: Marcel F. Jonkman, Peter M. Steijlen, M.A.M. van Steensel, Colin S. Munro, Judith Fischer, M. van Geel, Ruud G. L. Nellen, Hans Christian Hennies
المصدر: British Journal of Dermatology. 168:1372-1374
مصطلحات موضوعية: Genetics, Haplotype, Mutation (genetic algorithm), Dermatology, Biology, Gene, Founder effect