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المؤلفون: Jonas Rosendahl, Maren Ewers, Tomasz Gambin, Agnieszka Magdalena Rygiel, Heiko Witt, Alicja Domaszewicz, Joanna Kosińska, Paweł Kamiński, Helmut Laumen, Elwira Kolodziejczyk, Anna Drożak, Barbara Dorożko, Katarzyna Wertheim-Tysarowska, Grzegorz Oracz, Sebastian Kwiatkowski, Dorota Kozieł, Stanisław Głuszek, Jakub Drozak, Michal Zarod, Iwona Grabowska, Rafał Płoski
المصدر: Pancreatology. 21:1434-1442
مصطلحات موضوعية: Adult, medicine.medical_specialty, TRPV6, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Nonsense, TRPV Cation Channels, Gastroenterology, German, Young Adult, Germany, Pancreatitis, Chronic, Internal medicine, medicine, Humans, Missense mutation, Child, Exome sequencing, Loss function, media_common, Early onset, Hepatology, business.industry, medicine.disease, language.human_language, HEK293 Cells, language, Pancreatitis, Calcium Channels, Poland, business
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المؤلفون: Lucie Canaff, Claude Férec, Jonas Rosendahl, Katharina Eiseler, Emmanuelle Masson, Peter Bugert, Maren Ewers, Patrick Michl, Vinciane Rebours, Antonia Em. Weh, David Goltzman, Heiko Witt, Jian-Min Chen
المصدر: Pancreatology. 21:1299-1304
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Polymorphism (computer science), Pancreatitis, Chronic, Internal medicine, medicine, Humans, Child, Receptor, Allele frequency, Aged, 030304 developmental biology, Calcium metabolism, 0303 health sciences, Polymorphism, Genetic, Hepatology, business.industry, Infant, Newborn, Gastroenterology, Infant, NFAT, Middle Aged, medicine.disease, Endocrinology, Child, Preschool, Mutation, Pancreatitis, Female, 030211 gastroenterology & hepatology, Calcium-sensing receptor, business, Receptors, Calcium-Sensing
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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 -
4
المؤلفون: Diran Herebian, Heinz Zoller, Andreas R. Janecke, Alessandro De Grandi, Elisabeth Ruetzler-Dichtl, Maria Franzini, Aldo Paolicchi, Rastislav Rosipal, Thomas Müller, Peter P. Pramstaller, Sabine Scholl-Bürgi, Štefan Rosipal, Herbert Tilg, Alessandro Corti, Michele Emdin, Germano Zampa, Alfonso Pompella, Marianna Debreová, Ertan Mayatepek, Heiko Witt
المصدر: Hepatology (Baltimore, Md.)
مصطلحات موضوعية: Genetics, Male, Hepatology, Aged, Child, Preschool, Female, Humans, gamma-Glutamyltransferase, Mutation, Chemistry, DNA sequencing, Transmembrane protein, Clinical Observations in Hepatology, Mutation (genetic algorithm), Trait, Child, Preschool
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المؤلفون: Yoko Aoki, Takao Itoi, Kentaro Ishii, Eriko Nakano, Yoichi Matsubara, Ryo Funayama, Tsukasa Ikeura, Kiyoshi Kume, Kalliope N. Diakopoulos, Marc Freichel, Emmanuelle Masson, Reiko Sakaguchi, Ulrich Kriebs, Peter Bugert, Masayuki X. Mori, Franziska Lena Sörgel, Hiroshi Kotani, Yoichi Kakuta, Volodymyr Tsvilovskyy, Tetsuya Kawamoto, Atsushi Masamune, Helmut Laumen, Shin Hamada, Tatsuya Hirano, Claude Férec, Matsuyuki Shirota, Jian-Min Chen, Petra Weißgerber, Tom Kaune, Yasuhito Uezono, Jonas Rosendahl, Keiko Nakayama, Alexandra Berninger, Heiko Witt, Masao Nagasaki, Tooru Shimosegawa, Claudia Fecher-Trost, Maren Ewers, Yasuo Mori, Hana Algül, Lara Unger, Kazuichi Okazaki, Marina Lesina, Atsuki Hosokoshi, Tetsuya Niihori
المصدر: Gastroenterology. 158(6)
مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Gastroenterology, Mice, 0302 clinical medicine, INDEL Mutation, Age of Onset, Child, Exome sequencing, education.field_of_study, Middle Aged, Child, Preschool, Cohort, 030211 gastroenterology & hepatology, Female, Adult, medicine.medical_specialty, TRPV6, Adolescent, Population, TRPV Cation Channels, Mice, Transgenic, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, Internal medicine, Pancreatitis, Chronic, Exome Sequencing, medicine, Animals, Humans, education, Pancreas, Aged, Hepatology, business.industry, Calcium channel, Infant, Newborn, Infant, Odds ratio, medicine.disease, Disease Models, Animal, 030104 developmental biology, HEK293 Cells, Pancreatitis, Calcium, Calcium Channels, business, Homeostasis
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المؤلفون: Ib Rasmussen, László Czakó, Péter Hegyi, Andrea Párniczky, Flora Szabo, Tassos Grammatikopoulos, Mark E. Lowe, Sohail Z. Husain, Miklós Sahin-Tóth, Heiko Witt, Robert Sutton, Grzegorz Oracz, Maisam Abu-El-Haija, Aliye Uc, Michael Wilschanski
المصدر: Párniczky, A, Abu-El-Haija, M, Husain, S, Lowe, M, Oracz, G, Sahin-Tóth, M, Szabó, F K, Uc, A, Wilschanski, M, Witt, H, Czakó, L, Grammatikopoulos, T, Rasmussen, I C, Sutton, R & Hegyi, P 2018, ' EPC/HPSG evidence-based guidelines for the management of pediatric pancreatitis ', PANCREATOLOGY . https://doi.org/10.1016/j.pan.2018.01.001
مصطلحات موضوعية: medicine.medical_specialty, Evidence-based practice, Endocrinology, Diabetes and Metabolism, Disease, Recurrent acute pancreatitis, Pediatric pancreatitis, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, medicine, Humans, 03.02. Klinikai orvostan, Child, Intensive care medicine, Societies, Medical, Hepatology, business.industry, Incidence (epidemiology), Gastroenterology, Evidence-based management, 01.06. Biológiai tudományok, Guideline, medicine.disease, Evidence-based management guidelines, Acute pancreatitis, Europe, Pancreatitis, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Etiology, 030211 gastroenterology & hepatology, business, Chronic pancreatitis
وصف الملف: text; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e6e8861a3cce6770f7ead0bf5617796
http://publicatio.bibl.u-szeged.hu/13201/ -
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المؤلفون: Sandra Steigenberger, Helmut Friess, Johanna Tebbing, Markus Braun, G Venkat Rao, Hartmut Schmidt, Matthias Löhr, David A. Groneberg, Seema Bhaskar, Melinda Bence, Niels Teich, Sumit Paliwal, Maren Ludwig, Sebastian Beer, Péter Hegyi, Jonas Rosendahl, Olfert Landt, Alexander Schneider, Gourdas Choudhuri, Eriko Nakano, Peter Kovacs, Andrea Schnúr, Robert Grützmann, Ivan Balascak, Markus Schuelke, Yoichi Kakuta, Volker Keim, Hana Algül, Eesh Bhatia, Richárd Szmola, Karolin Saum, Catherine Delaporte, Matthias Blüher, Frank Schmidt, Jian-Min Chen, Giriraj R. Chandak, Bertram Wiedenmann, Michael Stumvoll, Emmanuelle Masson, Andreas R. Janecke, András Szabó, Milan Macek, Denise Lasher, Peter Bugert, Claudia Pilsak, Renate Krüger, Ulrike Witt, Joachim Mössner, Hans Ulrich Schulz, Agnieszka Sobczynska-Tomaszewska, Kiyoshi Kume, Varghese Thomas, Klaus Peter Zimmer, Atsushi Masamune, Lukasz Durko, Miklós Sahin-Tóth, D. Nageshwar Reddy, Zoltán Rakonczay, Claude Férec, Heiko Witt, Tooru Shimosegawa, Florence Bühler, Thomas Müller, Daniel Bak, Grzegorz Oracz, Roland H. Pfützer
المصدر: Nature Genetics. 45:1216-1220
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Carboxypeptidases A, Disease, Biology, Gastroenterology, Young Adult, Pancreatitis, Chronic, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Pancreatitis, chronic, Young adult, Child, Case-control study, Odds ratio, medicine.disease, medicine.anatomical_structure, Case-Control Studies, Pancreatitis, Age of onset, Pancreas
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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 -
9
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: Ulrich Wahn, Sabina Illi, Young-Ae Lee, Steffi Humberdros, Katja C. Beier, Renate Nickel, Franz Rüschendorf, Susanne Lau, Eckard Hamelmann, Heiko Witt
المصدر: Pediatric Allergy and Immunology. 20:242-245
مصطلحات موضوعية: Antigens, Differentiation, T-Lymphocyte, Allergy, Genotype, Immunology, Population, Immunoglobulin E, Airborne allergen, Cohort Studies, Inducible T-Cell Co-Stimulator Protein, Allergic sensitization, Atopy, Gene Frequency, Hypersensitivity, medicine, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Prospective Studies, Child, Promoter Regions, Genetic, education, Alleles, Asthma, education.field_of_study, biology, business.industry, Atopic dermatitis, Allergens, medicine.disease, Europe, Pediatrics, Perinatology and Child Health, biology.protein, business