المؤلفون: Luana Niculescu, Cristel Ruini, Jerome Srour, Suzanna Salzer, Ines Schönbuchner, Tanja von Braunmühl, Thomas Ruzicka, Ulrich Hohenleutner, Kathrin A. Giehl, Judith Fischer, Andreas Wollenberg

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 3, Pp 345-346 (2019)

مصطلحات موضوعية: tazarotene 0.015% cream, Dorfman-Chanarin syndrome, ichthyosis, optical coherence tomography, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3087; https://doaj.org/toc/0001-5555; https://doaj.org/toc/1651-2057

URL الوصول: https://doaj.org/article/1667b9fb38534fe29167f4401dce7b06

المؤلفون: Seçil Vural, W. Chen, Housien Hariry, Mark Baumgartner, Gerd Plewig, Gertrud Eckstein, Thomas Ruzicka, Bodo C. Melnik, Matthias Wagner, Peter Lichtner, Kathrin A. Giehl

المصدر: Journal of the European Academy of Dermatology and Venereology. 35:1386-1392

مصطلحات موضوعية: 0301 basic medicine, Nicastrin, Dermatology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, Genetic linkage, PSEN2, PSEN1, Humans, Medicine, Gamma secretase, Genetics, Mutation, Membrane Glycoproteins, biology, business.industry, Hidradenitis Suppurativa, Gamma-secretase complex, 030104 developmental biology, Infectious Diseases, biology.protein, Amyloid Precursor Protein Secretases, business, Signal Transduction, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b983695ee206b09af1a252718085d64
https://doi.org/10.1111/jdv.17163

المؤلفون: N Alelq, M Knop, Kathrin A. Giehl, M E Kubieniec

المصدر: Der Hautarzt. 72:215-224

مصطلحات موضوعية: Gynecology, 030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030220 oncology & carcinogenesis, medicine, Dermatology, Atopic diathesis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d0e6e3608ecba2b18f1acb13e201bd6b
https://doi.org/10.1007/s00105-021-04765-w

المؤلفون: Julia Kopp, Peter C. van den Akker, Matthias Schmuth, Zhou Yang, Angela Hernández-Martín, Bakar Bouadjar, Anette Bygum, Katariina Hannula-Jouppi, Maria C. Bolling, Svenja Alter, Iliana Tantcheva-Poor, Emmanuelle Bourrat, Anders Vahlquist, Juliette Mazereeuw-Hautier, Andreas Zimmer, Kathrin A. Giehl, Regina C. Betz, Gianluca Tadini, Sophie Guez, Alrun Hotz, Robert Gruber, Maritta Hellström Pigg, Cristina Has, Judith Fischer, Michela Brena, Katalin Komlosi, Vinzenz Oji, Natalie Jonca, A.D. Irvine, Kira Süßmuth, Giovanna Zambruno

المساهمون: Translational Immunology Groningen (TRIGR)

المصدر: Genes
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Congenital ichthyosiform erythroderma, lcsh:QH426-470, Lipoxygenase, ALOX12B, Biology, Arachidonate 12-Lipoxygenase, ALOXE3, Article, ARCI, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, CYP4F22, Genetics, medicine, Humans, Dermatologi och venereologi, ABCA12, Genetics (clinical), integumentary system, Ichthyosis, Lamellar ichthyosis, Harlequin Ichthyosis, Ichthyosiform Erythroderma, Congenital, medicine.disease, 3. Good health, Dermatology and Venereal Diseases, lcsh:Genetics, 030104 developmental biology, Mutation, biology.protein, Female, ichthyosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cb20b2ae1a8de6a5b6714d6477525f
http://europepmc.org/articles/PMC7826849

المؤلفون: Laura Engels, Kathrin A. Giehl, Thomas Ruzicka

المصدر: hautnah dermatologie. 35:34-41

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, business.industry, medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5c42e1c9154448e09c00114393134c0b
https://doi.org/10.1007/s15012-019-2886-y

المؤلفون: Kathrin A. Giehl, Jorge Frank, Lizelotte J. M. T. Parren, Michel van Geel

المساهمون: Promovendi ODB, Dermatologie, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: MA Dermatologie (9)

المصدر: Archives of Dermatological Research, 310(7), 599-606. Springer

مصطلحات موضوعية: 0301 basic medicine, Skin Neoplasms, Tumor suppressor gene, DNA Mutational Analysis, CYLD, Cylindroma, CYLINDROMAS, Dermatology, Biology, Trichoepithelioma, VARIANTS, SPIRADENOMA, Polymerase Chain Reaction, 03 medical and health sciences, Brooke-Spiegler syndrome, Neoplastic Syndromes, Hereditary, Familial cylindromatosis, Gene duplication, Multiple familial trichoepithelioma, medicine, Biomarkers, Tumor, Missense mutation, Humans, Genetic Predisposition to Disease, Gene, Genetics, MESSENGER-RNA DECAY, Genetic heterogeneity, General Medicine, BROOKE-SPIEGLER-SYNDROME, medicine.disease, Phenotype, Carcinoma, Adenoid Cystic, CANCER, Deubiquitinating Enzyme CYLD, INSIGHTS, 030104 developmental biology, Mutation, UPDATE, SUPPRESSOR GENE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d0464f528a1b160dac7b80da8b5c3b2
https://doi.org/10.1007/s00403-018-1848-2

المؤلفون: Roland Kruse, Silke Redler, Markus Böhm, Bettina Blaumeiser, Lynn Petukhova, Ulrike Blume-Peytavi, Markus M. Nöthen, Angela M. Christiano, Natalie Garcia Bartels, Hans Wolff, Andreas J. Forstner, Andrea Hofmann, David Broadley, Gerhard Lutz, Hermona Soreq, Alfredo De Rossi, Kathrin A. Giehl, Natalia V. Botchkareva, Aylar Tafazzoli, Regina C. Betz, Marta Bertolini

المصدر: The journal of investigative dermatology

مصطلحات موضوعية: 0301 basic medicine, Alopecia Areata, Genome-wide association study, Single-nucleotide polymorphism, Dermatology, Biology, Biochemistry, 03 medical and health sciences, Molecular Biology, 2708, Cell Biology, microRNA, medicine, Humans, SNP, Gene, Genetic association, Genetics, Qa-SNARE Proteins, Interleukin-2 Receptor alpha Subunit, Tenascin, Alopecia areata, medicine.disease, MicroRNAs, HEK293 Cells, 030104 developmental biology, Hair loss, Cancer research, Human medicine, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df87588faa65bd8fdc101804e13fa44
https://doi.org/10.1016/j.jid.2017.09.046

المؤلفون: Kathrin A. Giehl, Luana Niculescu, Thomas Ruzicka, Tanja von Braunmühl

المصدر: Der Hautarzt. 69:16-18

مصطلحات موضوعية: 030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Medicine, 030206 dentistry, Dermatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::133e43a4c2db118a54b6d1dcc1e47f96
https://doi.org/10.1007/s00105-018-4198-2

المؤلفون: M. Merlos, Juliette Mazereeuw-Hautier, A.M. De Palma, Marie Morren, Kathrin A. Giehl, Philip Moons, Angela Hernández-Martín

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Cross-sectional study, Dermatology, Diagnostic Self Evaluation, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, parasitic diseases, medicine, otorhinolaryngologic diseases, Humans, Netherton syndrome, In patient, Young adult, skin and connective tissue diseases, Aged, business.industry, Ichthyosis, Pruritus, Middle Aged, medicine.disease, eye diseases, Distress, Cross-Sectional Studies, 030104 developmental biology, Infectious Diseases, Mood, Itching, Female, medicine.symptom, business

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11bc87157d7b9c25b4d5d0cfc12635d
https://lirias.kuleuven.be/handle/123456789/644076

المؤلفون: L. Steinmüller‐Magin, Hatice Ilgın Ruhi, Atay Vural, L.M. Holdt, A. Kleinhempel, Kathrin A. Giehl, Mustafa Gündoğdu, Ceren D. Durmaz, T. Ruzicka, Ayşe Boyvat, E. Gökpınar İli, Seçil Vural

المصدر: British Journal of Dermatology. 180

مصطلحات موضوعية: Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fd20a6994d3ff895a1d56634c75312b7
https://doi.org/10.1111/bjd.17973

المؤلفون: Illiana Tantcheva-Poór, Holm Schneider, Manfred Rauh, Angela Dick, Vinzenz Oji, P. Krieg, J. Fischer, Kathrin A. Giehl

المصدر: British Journal of Dermatology. 177:e119-e121

مصطلحات موضوعية: 0301 basic medicine, Arachidonate 5-Lipoxygenase, Chemistry, Ichthyosis, Homozygote, Lipoxygenase, Dermatology, Pharmacology, Arachidonate 12-Lipoxygenase, Ceramides, medicine.disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 12R-Lipoxygenase, Multicenter study, Case-Control Studies, Mutation, medicine, Humans, Child, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114722cc3de689c90ed9eabdfaae7717
https://doi.org/10.1111/bjd.15406

المؤلفون: Atay Vural, Hatice Ilgın Ruhi, Ceren D. Durmaz, T. Ruzicka, A. Kleinhempel, Kathrin A. Giehl, Seçil Vural, Mustafa Gündoğdu, E. Gökpınar İli, L. Steinmüller‐Magin, L.M. Holdt, Ayşe Boyvat

المصدر: The British journal of dermatology. 180(6)

مصطلحات موضوعية: Adult, Male, Turkish population, medicine.medical_specialty, DNA Mutational Analysis, Familial Mediterranean fever, Dermatology, Gastroenterology, Pyrin domain, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, Hidradenitis suppurativa, Genetic Predisposition to Disease, Alleles, Adaptor Proteins, Signal Transducing, Skin, business.industry, Case-control study, Odds ratio, Pyrin, medicine.disease, MEFV, Familial Mediterranean Fever, Hidradenitis Suppurativa, Cytoskeletal Proteins, Case-Control Studies, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd9dcaf11211e021d15cb9e54968f1a
https://pubmed.ncbi.nlm.nih.gov/31157433

المؤلفون: Luana, Niculescu, Thomas, Ruzicka, Tanja von, Braunmühl, Kathrin A, Giehl

المصدر: Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete. 69(Suppl 1)

مصطلحات موضوعية: Blister, Pyoderma, Humans, Photosensitivity Disorders, Epidermolysis Bullosa, Periodontal Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9509c6158c728a15a633f4ead4c78b25
https://pubmed.ncbi.nlm.nih.gov/30264319

المؤلفون: Cristina Has, Kathrin A. Giehl, Henning Hamm

المصدر: Der Hautarzt. 70:472-473

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Dermatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3645feb0981d18b61f3f13010c605b55
https://doi.org/10.1007/s00105-019-4442-4

المؤلفون: Kathrin A. Giehl, Jürgen Schauber, Markus Braun-Falco, T. von Braunmühl, Gerd G. Gauglitz, Hannah Schwaiger, Mark Berneburg, Markus Reinholz, Thomas Ruzicka

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Ectodermal dysplasia, Pathology, medicine.medical_specialty, Adolescent, Pilot Projects, Context (language use), Dermatology, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, Optical coherence tomography, Ectodermal Dysplasia, Sweat gland, Biopsy, Sweat Gland Diseases, medicine, Humans, Family, Prospective Studies, Anhidrosis, Microscopy, Confocal, medicine.diagnostic_test, business.industry, medicine.disease, Infectious Diseases, medicine.anatomical_structure, Dysplasia, Child, Preschool, Female, Ectodysplasin A, medicine.symptom, business, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d76135244b98c448dcbcdc207b1df78
https://doi.org/10.1111/jdv.13085

المؤلفون: Kathrin A. Giehl

المصدر: Der Hautarzt. 67:583-585

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, Polymorphism (computer science), business.industry, MEDLINE, Medicine, Dermatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92e7b8f41a4f064366fc04bb95c842e3
https://doi.org/10.1007/s00105-016-3823-1

المؤلفون: Regina Fölster-Holst, Judith Fischer, Kathrin A. Giehl, Dirk Breitkreutz, Illiana Tantcheva-Poór, Marie-Luise Preil, Kirstin Kiekbusch, Ingrid Hausser, Geske Wehr, Steffen Emmert, Barbara Kleinow, Irina Zaraeva, Ana Maria Perusquia-Ortiz, Heiko Traupe, Stefan Weidinger, Vinzenz Oji, Hagen Ott, Karola Stieler, Anja Diem, Karin Aufenvenne, Peter Höger, Henning Hamm, Hans Christian Hennies

المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 15(10)

مصطلحات موضوعية: Balneotherapy, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genetic counseling, medicine.medical_treatment, RL, Alternative medicine, Context (language use), Dermatology, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, QH301, Young Adult, 0302 clinical medicine, Pregnancy, Germany, medicine, Humans, Genetic Predisposition to Disease, Intensive care medicine, Child, QH426, Ichthyosis, business.industry, Consensus conference, Infant, Newborn, Infant, medicine.disease, Prognosis, Psychosocial support, Patient support, 030220 oncology & carcinogenesis, Child, Preschool, Female, Guideline Adherence, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80dfa819ed306ebb0c7ec35b42d5a014
https://pubmed.ncbi.nlm.nih.gov/28976107

المؤلفون: Kirstin Kiekbusch, Geske Wehr, Dirk Breitkreutz, Ingrid Hausser, Marie Luise Preil, Judith Fischer, Stefan Weidinger, Henning Hamm, Irina Zaraeva, Hans Christian Hennies, Karola Stieler, Steffen Emmert, Karin Aufenvenne, Kathrin A. Giehl, Regina Fölster-Holst, Peter Höger, Hagen Ott, Ana Maria Perusquia-Ortiz, Illiana Tantcheva-Poór, Heiko Traupe, Vinzenz Oji, Anja Diem, Barbara Kleinow

المصدر: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG. 15(10)

مصطلحات موضوعية: Gynecology, 030207 dermatology & venereal diseases, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, 030220 oncology & carcinogenesis, Medicine, Dermatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::064b831eb65b6e88df130e9cd5abebb4
https://pubmed.ncbi.nlm.nih.gov/28976098

المؤلفون: Thomas Ruzicka, Jerome Srour, Luana Niculescu, Cristel Ruini, Andreas Wollenberg, Tanja von Braunmühl, Suzanna Salzer, Judith Fischer, Kathrin A. Giehl, Ulrich Hohenleutner, Ines Schönbuchner

المصدر: Acta Dermato-Venereologica, Vol 99, Iss 3, Pp 345-346 (2019)

مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Skin Cream, Dorfman-Chanarin syndrome, Dermatology, Lipid Metabolism, Inborn Errors, Ichthyosiform erythroderma, Keratolytic Agents, Muscular Diseases, Tazarotene, Humans, Medicine, DORFMAN-CHANARIN SYNDROME, optical coherence tomography, business.industry, Ichthyosis, Nicotinic Acids, General Medicine, Ichthyosiform Erythroderma, Congenital, medicine.disease, Water Loss, Insensible, tazarotene 0.015% cream, RL1-803, Female, ichthyosis, business, Ichthyosis, Lamellar, Tomography, Optical Coherence, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbc3f2035c805e8dbe04cce85282a94
https://doaj.org/article/1667b9fb38534fe29167f4401dce7b06

المؤلفون: Kinan Hayani, Max Schlaak, Jörg Kumbrink, Kathrin A. Giehl, Judith Fischer, Andreas Wollenberg, Lars E. French

المصدر: Acta Dermato-Venereologica, Vol 100, Iss 15, p adv00241 (2020)

مصطلحات موضوعية: next generation sequencing, Nevus, Pigmented, medicine.medical_specialty, Hardware_MEMORYSTRUCTURES, Skin Neoplasms, business.industry, Dermatology, General Medicine, RASopathy, Gene mutation, medicine.disease, rasopathy, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, Phacomatosis pigmentokeratotica, Fatal Outcome, schimmelpenning-feuerstein-mims syndrome, RL1-803, Mutation, medicine, phacomatosis pigmentokertotica, Humans, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b49616349ecf2945ae0e7064e88d27
https://doi.org/10.2340/00015555-3599