Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology by Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Nine V. A. M. Knoers, Martin H. de Borst

Get full text

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study by Nine V A M Knoers, Liffert Vogt, Martin H de Borst, Bert van der Zwaag, Mark Eijgelsheim, Amber de Haan, Albertien M van Eerde

Get full text

GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update by Laura R. Claus, Iris Lekkerkerker, Bert van der Zwaag, Tri Q. Nguyen, Nine V.A.M. Knoers, Martin H. de Borst, Maarten B. Rookmaker, Marc R. Lilien, Albertien M. van Eerde

Get full text

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics by Eddy N. de Boer, Nicole Corsten-Janssen, Elles Wierenga, Theo Bijma, Jurjen T. Knapper, Gerard J. te Meerman, Gwendolyn T. R. Manten, Nine V. A. M. Knoers, Katelijne Bouman, Leonie K. Duin, Cleo C. van Diemen

Get full text

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics by Eddy N. de Boer, Vincent Vroom, Arjen J. Scheper, Lennart F. Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z. Commandeur-Jan, Nine V. A. M. Knoers, Birgit Sikkema-Raddatz, Eva van den Berg, Cleo C. van Diemen

Get full text

Modifier genes in SCN1A‐related epilepsy syndromes by Iris M. de Lange, Flip Mulder, Ruben van 'tSlot, Anja C. M. Sonsma, Marjan J. A. vanKempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman

Get full text

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct... by Ilkka Pietilä, Renata Prunskaite-Hyyryläinen, Susanna Kaisto, Elisavet Tika, Albertien M van Eerde, Antti M Salo, Leonardo Garma, Ilkka Miinalainen, Wout F Feitz, Ernie M H F Bongers, André Juffer, Nine V A M Knoers, Kirsten Y Renkema, Johanna Myllyharju, Seppo J Vainio

Get full text

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

Get full text

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes by Iris M. deLange, Wout Weuring, Ruben van‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien deKovel, Lisette J. J. M. vanGemert, Flip Mulder, Marjan J. A. vanKempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman

Get full text

An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the Europe... by Roman-Ulrich Müller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V.A.M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C.M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh and Ron T. Gansevoort

Get full text

Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients. by Albertien M van Eerde, Karen Duran, Els van Riel, Carolien G F de Kovel, Bobby P C Koeleman, Nine V A M Knoers, Kirsten Y Renkema, Henricus J R van der Horst, Arend Bökenkamp, Johanna M van Hagen, Leonard H van den Berg, Katja P Wolffenbuttel, Joop van den Hoek, Wouter F Feitz, Tom P V M de Jong, Jacques C Giltay, Cisca Wijmenga

Get full text