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المؤلفون: Magdalena Woznowski, Lisa Rybicki, Bernd Hoppe, Karl Lhotta, Hartmut P. H. Neumann, Andreas Bock, Ariana Gaspert, Ludwig Patzer, Thomas Fehr, Thorsten Wiech, Gani Berisha, Maren Sullivan, Angelica Malinoc, Oemer-Necmi Goek, Charis Eng, Martin Zeier, Stefanie Reiermann, Klaus Arbeiter, Hannah Linke, Aurelia Winter, Klemens Budde, Michael M. Hoffmann
المصدر: Annals of Human Genetics. 75:639-647
مصطلحات موضوعية: Mutation, medicine.medical_specialty, medicine.medical_treatment, Genetic counseling, Complement factor I, Disease, Biology, medicine.disease_cause, medicine.disease, Penetrance, Germline mutation, Internal medicine, Atypical hemolytic uremic syndrome, Immunology, Genetics, medicine, Genetics (clinical), Dialysis
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المؤلفون: Maren Sullivan, Martin K. Walz, Hartmut P. H. Neumann, Charis Eng, Aurelia Winter, Carsten Christof Boedeker, Lars C. Moeller, Hartmut Bertz, Angelica Malinoc, Kurt Werner Schmid, Michael Hoffmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 96:E1279-E1282
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, SDHB, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Medizin, Adrenal Gland Neoplasms, Pheochromocytoma, Biochemistry, Paraganglioma, Endocrinology, Germline mutation, Risk Factors, Internal medicine, Prevalence, medicine, Humans, Retroperitoneal space, Genetic Predisposition to Disease, Registries, education, Gene, Germ-Line Mutation, education.field_of_study, business.industry, Biochemistry (medical), Membrane Proteins, Middle Aged, medicine.disease, medicine.anatomical_structure, Head and Neck Neoplasms, Abdominal Neoplasms, Female, SDHD, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909c2446aa46e35686897bf6de4b8bb5
https://doi.org/10.1210/jc.2011-0114 -
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المؤلفون: Maren, Sullivan, Lisa A, Rybicki, Aurelia, Winter, Michael M, Hoffmann, Stefanie, Reiermann, Hannah, Linke, Klaus, Arbeiter, Ludwig, Patzer, Klemens, Budde, Bernd, Hoppe, Martin, Zeier, Karl, Lhotta, Andreas, Bock, Thorsten, Wiech, Ariana, Gaspert, Thomas, Fehr, Magdalena, Woznowski, Gani, Berisha, Angelica, Malinoc, Oemer-Necmi, Goek, Charis, Eng, Hartmut P H, Neumann
المساهمون: University of Zurich
مصطلحات موضوعية: Adult, Male, Aging, 2716 Genetics (clinical), Adolescent, Penetrance, 610 Medicine & health, Middle Aged, Membrane Cofactor Protein, 1311 Genetics, Complement Factor I, Complement Factor H, 10049 Institute of Pathology and Molecular Pathology, Hemolytic-Uremic Syndrome, Mutation, Humans, Female, Child, Aged, Atypical Hemolytic Uremic Syndrome
وصف الملف: Sullivan_HumGen_2011.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9da2e94ebff9ce2c5099608f0d8837ce
https://www.zora.uzh.ch/id/eprint/50423/ -
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المؤلفون: Zoran Erlic, Ursula Ploeckinger, Alberto Cascon, Michael M Hoffmann, Laura von Duecker, Aurelia Winter, Gerit Kammel, Janina Bacher, Maren Sullivan, Berend Isermann, Lars Fischer, Andreas Raffel, Wolfram Trudo Knoefel, Matthias Schott, Tobias Baumann, Oliver Schaefer, Tobias Keck, Richard P Baum, Ioana Milos, Mihaela Muresan, Mariola Peczkowska, Andrzej Januszewicz, Kenko Cupisti, Anke Tönjes, Mathias Fasshauer, Jan Langrehr, Peter von Wussow, Abbas Agaimy, Günter Schlimok, Regina Lamberts, Thorsten Wiech, Kurt Werner Schmid, Alexander Weber, Mercedes Nunez, Mercedes Robledo, Charis Eng, Hartmut P H Neumann
المساهمون: University of Zurich
مصطلحات موضوعية: Male, Oncology, Cancer Research, Pathology, von Hippel-Lindau Disease, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Medizin, Disease, Neuroendocrine tumors, urologic and male genital diseases, Polymerase Chain Reaction, Endocrinology, Germany, Prevalence, 1306 Cancer Research, Family history, Child, Multiple endocrine neoplasia, Aged, 80 and over, medicine.diagnostic_test, DNA, Neoplasm, Middle Aged, Adenoma, Islet Cell, female genital diseases and pregnancy complications, 1310 Endocrinology, Neuroendocrine Tumors, 2712 Endocrinology, Diabetes and Metabolism, Female, 2730 Oncology, Adult, medicine.medical_specialty, Adolescent, 610 Medicine & health, Malignancy, Young Adult, Germline mutation, Internal medicine, parasitic diseases, Multiple Endocrine Neoplasia Type 1, medicine, Humans, MEN1, neoplasms, Germ-Line Mutation, Aged, Genetic testing, business.industry, Genetic Variation, Sequence Analysis, DNA, medicine.disease, 10029 Clinic and Policlinic for Internal Medicine, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af591c43026d954e3b55d23424d9a1f0
https://doi.org/10.5167/uzh-45080