المؤلفون: Anne Steininger, Grit Ebert, Benjamin V. Becker, Chalid Assaf, Markus Möbs, Christian A. Schmidt, Piotr Grabarczyk, Lars R. Jensen, Grzegorz K. Przybylski, Matthias Port, Andreas W. Kuss, Reinhard Ullmann

المصدر: Frontiers in Oncology, Vol 8 (2018)

مصطلحات موضوعية: chromosome conformation capture, chromoplexy, chromosomal translocations, deep sequencing, cutaneous T-cell lymphoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fonc.2018.00183/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/5eb923c91bc748f2aa8e9d9b0088e1a8

المؤلفون: Manuel Hitzler, Otto Majdic, Guido Heine, Margitta Worm, Grit Ebert, Andreas Luch, Matthias Peiser

المصدر: PLoS ONE, Vol 7, Iss 10, p e46776 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3467287?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5323ddadb6494b7d85271b86741cd6c9

المؤلفون: Markus Möbs, Piotr Grabarczyk, Matthias Port, Grzegorz K. Przybylski, Anne Steininger, Benjamin Valentin Becker, Andreas W. Kuss, Lars R. Jensen, Chalid Assaf, Grit Ebert, Reinhard Ullmann, Christian Schmidt

المصدر: Frontiers in Oncology
Frontiers in Oncology, Vol 8 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genome instability, Cancer Research, Carcinogenesis, Chromosomal translocation, Biology, lcsh:RC254-282, Genome, Translocation, Genetic, Translokation, T-Zell-Lymphom, chromosomal translocations, Chromosome conformation capture, deep sequencing, 03 medical and health sciences, ddc:610, Carcinogenese, chromoplexy, cutaneous T-cell lymphoma, Gene, Original Research, Genetics, Chromothripsis, Chromosome, Chromoplexy, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Lymphoma, T-Cell, Cutaneous, 030104 developmental biology, Oncology, chromosome conformation capture, High-throughput nucleotide sequencing

وصف الملف: application/pdf; image/tiff

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f7a4cf57fc8edeecf5448f5d32523a
https://doi.org/10.3389/fonc.2018.00183

المؤلفون: Reinhard Ullmann, Luitgard Graul-Neumann, Heidemarie Neitzel, Kateryna Konrat, Andreas Tzschach, Reyk Richter, Grit Ebert

المصدر: American Journal of Medical Genetics Part A. :242-245

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Microcephaly, Dolichocephaly, Developmental Disabilities, Chromosome Disorders, Short stature, Frontal Bossing, Intellectual Disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Child, Growth Disorders, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, business.industry, Chromosome, medicine.disease, Phenotype, Chromosomes, Human, Pair 2, Female, medicine.symptom, business, Haploinsufficiency, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e0eef46854b03e4a25b77318acdb31
https://doi.org/10.1002/ajmg.a.32637

المؤلفون: Annette Grüters, Markus Schuelke, Christof Dame, Ines Müller, Heike Biebermann, Hans-Jürgen Christen, Carsten G. Bönnemann, Patricia Crock, Reinhard Ullmann, Hans-Hilger Ropers, Grit Ebert, Matthias Griese, Anne Steininger, Pamela Schrumpf, Sabine Jyrch, Dietz Rating, Jacqueline K. Hewitt, Juri Katchanov, Iva Stoeva, Sarah Schnittert-Hübener, Francis deZegher, Anne Thorwarth, Heiko Krude, Christoph Hübner, Gunnar Kleinau, Barbara Plecko, Klaus Kapelari, Sten A. Ivarsson, Knut Brockmann

المساهمون: University of Zurich, Krude, Heiko

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Male, Candidate gene, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, DNA Copy Number Variations, Thyroid Nuclear Factor 1, Electrophoretic Mobility Shift Assay, 610 Medicine & health, Biology, Bioinformatics, Article, symbols.namesake, Germline mutation, 1311 Genetics, Molecular genetics, Genetics, medicine, Missense mutation, Humans, Point Mutation, Child, Genotyping, Genetics (clinical), Sanger sequencing, Comparative Genomic Hybridization, Point mutation, Genetic Diseases, Inborn, Infant, Newborn, Infant, Nuclear Proteins, Phenotype, 3. Good health, 10036 Medical Clinic, Child, Preschool, symbols, Female, Gene Deletion, Transcription Factors

وصف الملف: ThorwartA, 2014.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c4bb0d75cc5953a338ec723c1f6671
https://www.zora.uzh.ch/id/eprint/104724/

المؤلفون: Grit, Ebert, Anne, Steininger, Robert, Weißmann, Vivien, Boldt, Allan, Lind-Thomsen, Jana, Grune, Stefan, Badelt, Melanie, Heßler, Matthias, Peiser, Manuel, Hitzler, Lars R, Jensen, Ines, Müller, Hao, Hu, Peter F, Arndt, Andreas W, Kuss, Katrin, Tebel, Reinhard, Ullmann

المصدر: BMC Genomics

مصطلحات موضوعية: Williams Syndrome, Transcription, Genetic, Chromosome evolution, Segmental duplication, Acetylation, Epistasis, Genetic, Genomics, Chromatin, Evolution, Molecular, Histones, Segmental Duplications, Genomic, Genetic Loci, Hi-C, Chromosomes, Human, Pair 2, Williams-Beuren syndrome, Higher order chromatin organisation, Humans, Chromosomes, Human, Pair 7, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::780cf09ab0de42740eecfa96249f76a2
https://pubmed.ncbi.nlm.nih.gov/24973960

المؤلفون: Andreas Luch, Guido Heine, Grit Ebert, Matthias Peiser, Otto Majdic, Manuel Hitzler, Margitta Worm

المصدر: PLoS ONE
PLoS ONE, Vol 7, Iss 10, p e46776 (2012)

مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Skin Physiology, Anatomy and Physiology, Lipopolysaccharide, medicine.medical_treatment, Programmed Cell Death 1 Receptor, lcsh:Medicine, Biochemistry, Monocytes, chemistry.chemical_compound, Nickel, Cytotoxic T cell, Interferon gamma, lcsh:Science, Cells, Cultured, Skin, Multidisciplinary, Microscopy, Confocal, T Cells, Allergy and Hypersensitivity, Immunochemistry, Interleukin-17, Bacterial Infections, T-Lymphocytes, Helper-Inducer, Flow Cytometry, Immunohistochemistry, Cell biology, Cytokine, Infectious Diseases, Dermatitis, Allergic Contact, Cytokines, Medicine, Tumor necrosis factor alpha, Interleukin 17, medicine.drug, Research Article, Skin Infections, Immune Cells, Immunology, Antigen-Presenting Cells, Dermatology, Biology, In Vitro Techniques, Contact Dermatitis, Interferon-gamma, Immune system, medicine, Humans, Secretion, Tumor Necrosis Factor-alpha, Interleukins, lcsh:R, chemistry, Microscopy, Fluorescence, Langerhans Cells, Immune System, lcsh:Q

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61069406ea641a524b27fa9cba090eb
https://pubmed.ncbi.nlm.nih.gov/23056446

المؤلفون: Matthias Port, Anne Steininger, Katrin Tebel, Grit Ebert, Vivien Boldt, Reinhard Ullmann

المصدر: BMC Bioinformatics

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Interface (computing), Context (language use), Computational biology, Microarray, Biology, computer.software_genre, Biochemistry, Field (computer science), Integrative visualization, 03 medical and health sciences, 0302 clinical medicine, Software, Structural Biology, Humans, Computer Simulation, Molecular Biology, Graphical user interface, Multidimensional analysis, Genome, Human, business.industry, Applied Mathematics, Reproducibility of Results, Genomics, Models, Theoretical, Visualization, Computer Science Applications, Identification (information), DNA copy number variants, 030104 developmental biology, NGS, 030220 oncology & carcinogenesis, Data mining, business, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6cf5d947dcfe1e161954ba82c188aa6