Výsledky vyhledávání - Daan H.H.M. Viering
- Zobrazuji výsledky 1 - 4 z 4
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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness Autor Karl P. Schlingmann, Aparna Renigunta, Ewout J. Hoorn, A. W. Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S. Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stéphanie Tellier, Caroline Rousset‐Rouvière, Daan H.H.M. Viering, Jeroen H. F. de Baaij, Stefanie Weber, Oleg Palygin, Alexander Staruschenko, Robert Kleta, Pascal Houillier, Detlef Böckenhauer, Olivier Devuyst, Rosa Vargas‐Poussou, Richard Warth, Anselm A. Zdebik, Martin Konrad
Vydáno 2021Artigo -
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Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA Autor Daan H.H.M. Viering, Karl P. Schlingmann, Marguerite Hureaux, Tom Nijenhuis, Andrew Mallett, Melanie Chan, André P. van Beek, Albertien M. van Eerde, Jean-Marie Coulibaly, Marion Vallet, Stéphane Decramer, Sandra Pelletier, Günter Klaus, Martin Kömhoff, Rolf Beetz, Chirag Patel, Mohan Shenoy, Eric J. Steenbergen, Glenn Anderson, Ernie M.H.F. Bongers, Carsten Bergmann, Daan M. Panneman, Richard J. Rodenburg, Robert Kleta, Pascal Houillier, Martin Konrad, Rosa Vargas‐Poussou, Nine V.A.M. Knoers, Detlef Böckenhauer, Jeroen H. F. de Baaij
Vydáno 2021Artigo -
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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 Autor Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu, Elena García‐Martínez, Richard Caswell, Hana Lango Allen, Montserrat Antón-Gamero, Jesús Argente, Anna-Marie Bussell, André W. Brändli, Chris Cheshire, Elizabeth Crowne, Simona Dumitriu, Robert Drynda, Julian Hamilton‐Shield, Wesley Hayes, Alexis Hofherr, Daniela Iancu, Naomi Issler, Craig Jefferies, Peter M. Jones, Matthew B. Johnson, Anne Kesselheim, Enriko Klootwijk, M Koettgen, Wendy Lewis, José María Martos, Monika Mozere, Jill T. Norman, Vaksha Patel, Andrew Parrish, Celia Pérez‐Cerdá, Jesús Pozo, Sofia Rahman, Neil J. Sebire, Mehmet Tekman, Peter D. Turnpenny, William van’t Hoff, Daan H.H.M. Viering, Michael N. Weedon, Patricia D. Wilson, Lisa M. Guay‐Woodford, Robert Kleta, Khalid Hussain, Sian Ellard, Detlef Böckenhauer
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Endocrinology
Internal medicine
Kidney
Medicine
Distal convoluted tubule
Hypokalemia
Reabsorption
Tubulopathy
Bartter syndrome
Biology
Chemistry
Gene
Genetics
Gitelman syndrome
Hypomagnesemia
Magnesium
Organic chemistry
Phenotype
Compound heterozygosity
Excretion
Genetic heterogeneity
Homeostasis
Hypercalciuria
Hypocalciuria
Insulin
Insulin resistance
Nephrology
Polycystic kidney disease
Polycystic ovary