المؤلفون: Ralph Witzgall, Detlef Bockenhauer, Markus Reichold, Thomas Baukrowitz, Ines Tegtmeier, Christina Sterner, Robert Kleta, Sally-Anne Hulton, Alexander J. Howie, Anselm A. Zdebik, Bruria Ben-Zeev, David Penton, Richard Warth, Sascha Bandulik, Katharina Schmidt, Markus Rapedius, E Lieberer

المصدر: Proceedings of the National Academy of Sciences. 107:14490-14495

مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Hearing Loss, Sensorineural, Mutation, Missense, Nephron, KCNJ10, Gene mutation, Transfection, Cell Line, Mice, Tubulopathy, Internal medicine, medicine, EAST syndrome, Animals, Humans, Abnormalities, Multiple, Potassium Channels, Inwardly Rectifying, Kidney Tubules, Distal, Kidney, Epilepsy, Multidisciplinary, biology, Reabsorption, Syndrome, Biological Sciences, medicine.disease, Mice, Inbred C57BL, medicine.anatomical_structure, Endocrinology, biology.protein, Kidney Diseases, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::711a154877b277b54fc3174787023bc6
https://doi.org/10.1073/pnas.1003072107

المؤلفون: D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, M Reichold, J Tobin, E Lieberer, C Sterner, G Landoure, R Arora, T Sirimanna, D Thompson, JH Cross, W van't Hoff, O Al Masri, K Tullus, S Yeung, Y Anikster, E Klootwijk, M Hubank, MJ Dillon, D Heitzmann, M Arcos-Burgos, MA Knepper, A Dobbie, WA Gahl, R Warth, E Sheridan, R Kleta

المصدر: Clinical Journal of the American Society of Nephrology. 4:1701-1704

مصطلحات موضوعية: Transplantation, Nephrology, Epidemiology, Critical Care and Intensive Care Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8872c6eda836c7e6713f962c667343b0
https://doi.org/10.2215/01.cjn.0000927052.57897.21

المؤلفون: F. Stögbauer, M. Neumeier, Josef Wanninger, Johanna Weigert, Andreas Schäffler, E. Lieberer, Margarita Bala, D. Sporrer, Markus Weber, Andrea Kopp, Christa Buechler

المصدر: European Journal of Clinical Investigation. 39:671-679

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Clinical Biochemistry, Antigens, Differentiation, Myelomonocytic, Down-Regulation, Adipokine, Enzyme-Linked Immunosorbent Assay, Receptors, Cell Surface, Inflammation, Type 2 diabetes, Biochemistry, Antigens, CD, Internal medicine, medicine, Humans, Hypoglycemic Agents, Obesity, Interleukin 6, biology, Adiponectin, business.industry, Monocyte, nutritional and metabolic diseases, General Medicine, Middle Aged, Ribonucleotides, Aminoimidazole Carboxamide, medicine.disease, Metformin, Endocrinology, medicine.anatomical_structure, Diabetes Mellitus, Type 2, biology.protein, Female, medicine.symptom, business, CD163, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d21f37f5a43e6da4db3a4ab8a8e14c26
https://doi.org/10.1111/j.1365-2362.2009.02170.x

المؤلفون: Kjell Tullus, Christina Sterner, Ruchi Arora, Guida Landouré, Sally Feather, Michael J. Dillon, Mauricio Arcos-Burgos, Mark A Knepper, Markus Reichold, Omar Al Masri, Jonathan Tobin, Eamonn Sheridan, Anselm A. Zdebik, William A. Gahl, Dorothy A. Thompson, Yair Anikster, Sascha Bandulik, Richard Warth, Horia Stanescu, Robert Kleta, J. Helen Cross, Tony Sirimanna, Stella Yeung, Angus Dobbie, Detlef Bockenhauer, Mike Hubank, Dirk Heitzmann, William van’t Hoff, E Lieberer, Enriko Klootwijk

المصدر: New England Journal of Medicine. 360:1960-1970

مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Renal Tubular Transport, Inborn Errors, Ataxia, Hearing Loss, Sensorineural, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Locus (genetics), KCNJ10, Mice, Epilepsy, Tubulopathy, Genetic linkage, Internal medicine, medicine, EAST syndrome, Animals, Humans, Amino Acid Sequence, Potassium Channels, Inwardly Rectifying, Mice, Knockout, Genetics, biology, business.industry, Sodium, Sequence Analysis, DNA, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Endocrinology, Chromosomes, Human, Pair 1, Child, Preschool, Potassium, biology.protein, Female, Lod Score, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea65160702f632bde0c7ad2915c87972
https://doi.org/10.1056/nejmoa0810276

المؤلفون: Angus Dobbie, Nine V A M Knoers, Joost G. J. Hoenderop, U. Scholl, N. Feeley, N. Esmon, O. Al Masri, Markus Reichold, Ruchi Arora, C. Esmon, E. Conway, J.G.A.M. Heister, Rosana Herminia Scola, P. Scheel, G. Ferrell, Bob Glaudemans, Detlef Bockenhauer, W. van 't Hof, S. Tobe, J.A.J. van der Wijst, J. Grimmer, S. Yeung, Horia Stanescu, C. Nelson-Williams, Jonathan Tobin, Sascha Bandulik, Anselm A. Zdebik, Yair Anikster, Eamonn Sheridan, J. Del-Favero, E Lieberer, Richard Warth, Guida Landouré, T. Liu, M. Häusler, I.J. Jansen, Mauricio Arcos-Burgos, J.W.C.M. van der Kemp, M. Choi, René J. M. Bindels, Enriko Klootwijk, V. Ramaekers, J. Cross, Michael J. Dillon, S. Plaisance, Dirk Heitzmann, M. Delvaeye, B. Claes, E. van Bommel, Paulo José Lorenzoni, Christina Sterner, Robert Kleta, Sally Feather, William A. Gahl, Dorothy A. Thompson, J.P Grünveld, D. Lambrechts, R.P. Lifton, Kjell Tullus, M. Noris, A. Aarnoudse, G. Remuzzi, A. Fahri, Tony Sirimanna, T. Hendriksz, A. de Vriese, Knepper, Mike Hubank

المصدر: Clinical Journal of the American Society of Nephrology, 4, 11, pp. 1701-1704
Clinical Journal of the American Society of Nephrology, 4, 1701-1704

مصطلحات موضوعية: medicine.medical_specialty, Pathology, Ataxia, Epidemiology, Membrane transport and intracellular motility [NCMLS 5], KCNJ10, Sensorineural deafness, Critical Care and Intensive Care Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Epilepsy, Tubulopathy, Internal medicine, medicine, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Renal disorder [IGMD 9], Transplantation, biology, business.industry, medicine.disease, Endocrinology, Nephrology, biology.protein, Kidney disorder, medicine.symptom, business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad1665b6b33404d935e342755eb48e1e
https://hdl.handle.net/2066/76952

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