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المؤلفون: András Szabó, Prachand Issarapu, Emmanuelle Masson, Peter Bugert, Denise Lasher, Sumit Paliwal, Claudia Ruffert, Shin Hamada, K. Radha Mani, Helmut Laumen, Jian-Min Chen, Atsushi Masamune, David A. Groneberg, Katharina Seltsam, Kiyoshi Kume, Xunjun Xiao, Maren Ewers, Eriko Nakano, M. Michael Barmada, Tooru Shimosegawa, Jonas Rosendahl, Giriraj R. Chandak, Thomas Müller, Mark E. Lowe, Miklós Sahin-Tóth, Heiko Witt, Seema Bhaskar, David C. Whitcomb, Claude Férec
المصدر: American Journal of Gastroenterology. 114:974-983
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, medicine.medical_treatment, DNA Mutational Analysis, medicine.disease_cause, Article, Pathogenesis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Pancreatitis, Chronic, Internal medicine, medicine, Humans, Pancreatic lipase, Genetic Predisposition to Disease, Child, Gene, Early onset, Mutation, Protease, Virulence, Hepatology, biology, business.industry, Infant, Newborn, Gastroenterology, Infant, DNA, Lipase, medicine.disease, Trypsin, Endocrinology, Child, Preschool, 030220 oncology & carcinogenesis, biology.protein, Pancreatitis, Female, 030211 gastroenterology & hepatology, business, Biomarkers, Follow-Up Studies, Peptide Hydrolases, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8f489f34cd4a57579c412918eeeab3
https://doi.org/10.14309/ajg.0000000000000051 -
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المؤلفون: Miklós Sahin-Tóth, Heiko Witt, Andrea Schnúr, Sebastian Beer, Péter Hegyi
المصدر: Gut. 63:337-343
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Mutation, Hereditary pancreatitis, Trypsinogen, Chymotrypsin-C, Gastroenterology, Biology, medicine.disease, medicine.disease_cause, Article, ddc, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, medicine, Pancreatitis, Secretion, Trypsinogen activation, Pancreatitis, chronic
وصف الملف: application/pdf
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المؤلفون: Tobias Mueller, Peter Kovacs, V Knop, Stephan H. Bohm, Christoph Sarrazin, Jonas Rosendahl, Peter Bugert, Heiko Witt, Michael Stumvoll, Janett Fischer, Reinhard Gessner, Matthias Blüher, Eckart Schott, Florian van Bömmel, Thomas Berg, Dorit Schleinitz, Andreas Mas Marques
المساهمون: Klinik für Ernährungsmedizin
مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, Adult, Male, Hepatitis C virus, Single-nucleotide polymorphism, Hepacivirus, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Liver disease, Young Adult, 0302 clinical medicine, Apolipoproteins E, Gene Frequency, Germany, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Allele frequency, Aged, Aged, 80 and over, Hepatology, virus diseases, Hepatitis C, Hepatitis C, Chronic, Middle Aged, medicine.disease, Fibrosis, digestive system diseases, ddc, Lipoproteins, LDL, 030104 developmental biology, Liver, Case-Control Studies, Immunology, 030211 gastroenterology & hepatology, Female, lipids (amino acids, peptides, and proteins), Lipoprotein
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::947b36d9fc8a77fcf48a348e9eeb5e15
https://mediatum.ub.tum.de/1346138 -
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المؤلفون: Klaus Peter Zimmer, Holm H. Uhlig, Mark Donowitz, Nadja Baumgartner, Satu Wedenoja, Peter Heinz-Erian, Silvia Lechner, Ian W. Booth, Julia Vodopiutz, Heinz Zoller, Evelyne Marinier, Britt-Sabina Petersen, Irene Fuchs, Andreas R. Janecke, Serge Melançon, C. Ming Tse, Nina Ristic, Simon Travis, Vojislav N. Perisic, Marie Christine Frechette-Duval, Thomas Müller, Rabindranath Persad, Nicholas C. Zachos, Andre Franke, Aleixo M. Muise, Rafiquel Sarker, Xinjun Zhu, Patrick Gerner, Heiko Witt, Jianyi Yin, Karan Sud, Neil Warner, Jan De Lafollie
المصدر: Human Molecular Genetics. 24(23)
مصطلحات موضوعية: Adult, Diarrhea, Male, Sodium-Hydrogen Exchangers, Adolescent, Antiporter, DNA Mutational Analysis, Genes, Recessive, Biology, medicine.disease_cause, symbols.namesake, Young Adult, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Intestinal Mucosa, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Oligonucleotide Array Sequence Analysis, Sanger sequencing, Mutation, Microvilli, Genetic heterogeneity, Sodium-Hydrogen Exchanger 3, Infant, Newborn, Infant, General Medicine, Articles, medicine.disease, Inflammatory Bowel Diseases, Uniparental disomy, 3. Good health, Intestines, Child, Preschool, symbols, Female, Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8369d1b92e410b398551687c21f29495
http://ora.ox.ac.uk/objects/uuid:92ec8092-4e7d-48cb-85a1-e64a92a85668 -
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المؤلفون: Bernhard, Steiner, Jonas, Rosendahl, Heiko, Witt, Niels, Teich, Volker, Keim, Hans-Ulrich, Schulz, Roland, Pfützer, Matthias, Löhr, Matthias, Lühr, Thomas M, Gress, Renate, Nickel, Olfert, Landt, Monika, Koudova, Milan, Macek, Antoni, Farre, Teresa, Casals, Marie-Claire, Desax, Sabina, Gallati, Macarena, Gomez-Lira, Marie Pierre, Audrezet, Claude, Férec, Marie, des Georges, Mireille, Claustres, Kaspar, Truninger
المساهمون: Institute of Medical Microbiology [Zurich], Universität Zürich [Zürich] = University of Zurich (UZH), Etablissement Français du Sang Bretagne, EFS, Department of Gastroenterology, University of Marburg, Department of Biology and Medical Genetics, Charles University Prague, Medical School and University, The Weatherall Institute of Molecular Medicine, University of Oxford [Oxford], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University of Zurich, Truninger, K
المصدر: Human Mutation
Human Mutation, Wiley, 2011, 32 (8), pp.912-920. ⟨10.1002/humu.21511⟩
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: Male, 10039 Institute of Medical Genetics, [SDV]Life Sciences [q-bio], Cystic Fibrosis Transmembrane Conductance Regulator, medicine.disease_cause, Gastroenterology, Vas Deferens, Male Urogenital Diseases, Genotype, Genetics(clinical), CFTR, Child, Genetics (clinical), Genetics, 0303 health sciences, Mutation, education.field_of_study, integumentary system, musculoskeletal, neural, and ocular physiology, 030305 genetics & heredity, Vas deferens, Middle Aged, 3. Good health, idiopathic chronic pancreatitis, medicine.anatomical_structure, Trypsin Inhibitor, Kazal Pancreatic, CBAVD, Adult, 2716 Genetics (clinical), medicine.medical_specialty, Adolescent, Genetic counseling, Population, 610 Medicine & health, Biology, Young Adult, 03 medical and health sciences, 1311 Genetics, Pancreatitis, Chronic, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, education, Infertility, Male, 030304 developmental biology, Haplotype, Epistasis, Genetic, Heterozygote advantage, medicine.disease, nervous system diseases, Haplotypes, 570 Life sciences, biology, Pancreatitis, Carrier Proteins
وصف الملف: Steiner_et_al,_Common_CFTR_haplotypes.pdf - application/pdf
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المؤلفون: Stefan Taube, Justus Welke, V. Weich, Manfred Wiese, Christoph Sarrazin, Hermann E. Wasmuth, Eckart Schreier, Eckart Schott, Frank Lammert, J. Halangk, Golo Ahlenstiel, Ulrich Spengler, Heiko Witt, Uwe Goebel, Thomas Berg, Andreas Mas Marques, B. Schlosser, Tobias Mueller
المصدر: Infection, Genetics and Evolution. 9:847-852
مصطلحات موضوعية: Adult, Male, Microbiology (medical), Genotype, Combination therapy, Hepatitis C virus, Remission, Spontaneous, Biology, medicine.disease_cause, Antiviral Agents, Polymorphism, Single Nucleotide, Microbiology, Young Adult, chemistry.chemical_compound, Interferon, Genetics, medicine, Humans, 3' Untranslated Regions, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Aged, Ribavirin, Remission Induction, Exons, Hepatitis C, Hepatitis C, Chronic, Middle Aged, medicine.disease, Virology, Cross-Sectional Studies, Logistic Models, Infectious Diseases, Receptors, LDL, chemistry, Case-Control Studies, Multivariate Analysis, LDL receptor, Immunology, Female, Interferons, Viral hepatitis, medicine.drug
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المؤلفون: Heiko Witt, Sebastian Müller, Rupino W. Griffioen, Franz Rüschendorf, Claudia Sengler, Young-Ae Lee, Renate Nickel, Ulrich Wahn, Simona Eva Zitnik, Paolo Meglio
المصدر: Pediatric Allergy and Immunology. 20:551-555
مصطلحات موضوعية: Allergy, Genotype, Eggs, Immunology, Immunoglobulin E, medicine.disease_cause, Dermatitis, Atopic, Atopy, Allergen, Immunopathology, Anti-Allergic Agents, Humans, Immunology and Allergy, Medicine, Egg Hypersensitivity, Sensitization, Asthma, Interleukin-13, biology, business.industry, Genetic Variation, Infant, Atopic dermatitis, Allergens, medicine.disease, Cetirizine, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, business, Food Hypersensitivity
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المؤلفون: Holger Hinrichsen, Carolin Fitz, Bertram Wiedenmann, Christoph Sarrazin, Peter Neuhaus, Konrad Neumann, Heiko Witt, Thomas Berg, Gero Puhl, J. Halangk, Tobias Mueller
المصدر: Genetic Testing and Molecular Biomarkers. 13:407-414
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genotype, Hepatitis C virus, Angiotensinogen, Biology, medicine.disease_cause, Chronic liver disease, Linkage Disequilibrium, Young Adult, Gene Frequency, Risk Factors, Hepatic Stellate Cells, medicine, Humans, Liver Diseases, Alcoholic, Allele frequency, Alleles, Genetics (clinical), Aged, Aged, 80 and over, Liver Diseases, Genetic Variation, General Medicine, Hepatitis C, Hepatitis C, Chronic, Middle Aged, medicine.disease, Fibrosis, Angiotensin II, Genotype frequency, Case-Control Studies, Immunology, Disease Progression, Female, Viral hepatitis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::086d107a6aa5d47a9ac7a6647ba30eb6
https://doi.org/10.1089/gtmb.2008.0135 -
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المؤلفون: Tobias Müller, Eckart Schott, J. Halangk, A. Bergk, Heiko Witt, M. Pascu, Thomas Berg, Gero Puhl, Florian van Boemmel, V. Weich, Bertram Wiedenmann
المصدر: European Journal of Gastroenterology & Hepatology. 19:947-951
مصطلحات موضوعية: Adult, Male, Hepatitis B virus, Adolescent, Genotype, Cholangitis, Sclerosing, Hepacivirus, Autoimmune hepatitis, Chronic liver disease, medicine.disease_cause, Polymorphism, Single Nucleotide, Hepatitis B, Chronic, Primary biliary cirrhosis, Gene Frequency, Orthohepadnavirus, Antigens, CD, Liver Cirrhosis, Alcoholic, medicine, Humans, CTLA-4 Antigen, Aged, Hepatitis, Chronic, Aged, 80 and over, Autoimmune disease, Chi-Square Distribution, Hepatology, biology, Liver Cirrhosis, Biliary, business.industry, Gastroenterology, Hepatitis C, Chronic, Middle Aged, Hepatitis B, biology.organism_classification, medicine.disease, Fatty Liver, Hepatitis, Autoimmune, Hepadnaviridae, Case-Control Studies, Immunology, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab3c868936d87ee81dac68fbd2433d1
https://doi.org/10.1097/meg.0b013e3282efa240 -
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المؤلفون: V. Weich, A. Bergk, Konrad Neumann, Thomas Berg, Eckart Schreier, Sandra Vierich, Stefan Taube, Gero Puhl, Heiko Witt, J. Halangk, Bertram Wiedenmann, Djin-Ye Oh, Eckart Schott
المصدر: Journal of Hepatology. 47:203-211
مصطلحات موضوعية: Hepatology, medicine.diagnostic_test, Hepatitis C virus, virus diseases, Single-nucleotide polymorphism, Biology, medicine.disease_cause, medicine.disease, Fibrosis, Liver biopsy, Genotype, Immunology, medicine, Allele, Hepatic fibrosis, Allele frequency