Risultati della ricerca - N. Knoers

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  1. 1
    Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus

    Clinical Presentation and Follow-Up of 30 Patients with Congenital Nephrogenic Diabetes Insipidus di A.F. van Lieburg, N. Knoers, L.A.H. Monnens

    Pubblicazione 1999
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  2. 2
    CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

    CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia di Marchel Stuiver, Sergio Laínez, Constanze Will, Sara Terryn, Dorothee Günzel, Huguette Debaix, Kerstin Sommer, Kathrin Kopplin, Julia Thumfart, Nicole B. Kampik, Uwe Querfeld, Thomas E. Willnow, Vladimír Němec, Carsten A. Wagner, Joost G.J. Hoenderop, Olivier Devuyst, N. Knoers, René J.M. Bindels, Iwan C. Meij, Dominik Müller

    Pubblicazione 2011
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  3. 3
    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders

    Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders di Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, P.M. Grootscholten, Henny H. Lemmink, Jan D.H. Jongbloed, Laura Bosscher, N. Knoers, Morris A. Swertz, Birgit Sikkema‐Raddatz, Dorieke J. Dijkstra, Lennart Johansson, Cleo C. van Diemen

    Pubblicazione 2025
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  4. 4
    Male patients affected by mosaic PCDH19 mutations: five new cases

    Male patients affected by mosaic PCDH19 mutations: five new cases di Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra

    Pubblicazione 2017
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