Inherited forms of renal hypomagnesemia: an update

por Knoers, Nine V. A. M.
Publicado 2009

The term CAKUT has outlived its usefulness: the case for the defense

por Knoers, Nine V. A. M.
Publicado 2022

Current insights into renal ciliopathies: what can genetics teach us?

por Arts, Heleen H., Knoers, Nine V. A. M.
Publicado 2012

Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups

por Claus, Laura R., Snoek, Rozemarijn, Knoers, Nine V. A. M., van Eerde, Albertien M.
Publicado 2022

Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology

por de Haan, Amber, Eijgelsheim, Mark, Vogt, Liffert, Knoers, Nine V. A. M., de Borst, Martin H.
Publicado 2019

Three‐dimensional facial morphology in Cantú syndrome

por Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Publicado 2020

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study

por de Haan, Amber, Eijgelsheim, Mark, Vogt, Liffert, van der Zwaag, Bert, van Eerde, Albertien M, Knoers, Nine V A M, de Borst, Martin H
Publicado 2022

The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis

por Renkema, Kirsten Y., Giles, Rachel H., Lilien, Marc R., Beales, Philip L., Roepman, Ronald, Oud, Machteld M., Arts, Heleen H., Knoers, Nine V. A. M.
Publicado 2018

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure

por de Haan, Amber, Morel, Chantal F, Eijgelsheim, Mark, de Jong, Margriet F C, Broekroelofs, Jan, Vogt, Liffert, Knoers, Nine V A M, de Borst, Martin H
Publicado 2022

TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy

por Hofstra, Julia M., Coenen, Marieke J. H., Schijvenaars, Mascha M. V. A. P., Berden, Jo H. M., van der Vlag, Johan, Hoefsloot, Lies H., Knoers, Nine V. A. M., Wetzels, Jack F. M., Nijenhuis, Tom
Publicado 2014

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado 2008

Modifier genes in SCN1A‐related epilepsy syndromes

por de Lange, Iris M., Mulder, Flip, van 't Slot, Ruben, Sonsma, Anja C. M., van Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2020

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital

por Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Publicado 2021

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

por Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.
Publicado 2021

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...

por Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M., Salo, Antti M., Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F., Bongers, Ernie M. H. F., Juffer, André, Knoers, Nine V. A. M., Renkema, Kirsten Y., Myllyharju, Johanna, Vainio, Seppo J.
Publicado 2016

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

por de Lange, Iris M., Weuring, Wout, van ‘t Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., McCormack, Mark, de Kovel, Carolien, van Gemert, Lisette J. J. M., Mulder, Flip, van Kempen, Marjan J. A., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2019

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

por Boulogne, Floranne, Claus, Laura R., Wiersma, Henry, Oelen, Roy, Schukking, Floor, de Klein, Niek, Li, Shuang, Westra, Harm-Jan, van der Zwaag, Bert, van Reekum, Franka, Sierks, Dana, Schönauer, Ria, Li, Zhigui, Bijlsma, Emilia K., Bos, Willem Jan W., Halbritter, Jan, Knoers, Nine V. A. M., Besse, Whitney, Deelen, Patrick, Franke, Lude, van Eerde, Albertien M.
Publicado 2023

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across...

por Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.
Publicado 2010

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...

por Müller, Roman-Ulrich, Messchendorp, A Lianne, Birn, Henrik, Capasso, Giovambattista, Cornec-Le Gall, Emilie, Devuyst, Olivier, van Eerde, Albertien, Guirchoun, Patrick, Harris, Tess, Hoorn, Ewout J, Knoers, Nine V A M, Korst, Uwe, Mekahli, Djalila, Le Meur, Yannick, Nijenhuis, Tom, Ong, Albert C M, Sayer, John A, Schaefer, Franz, Servais, Aude, Tesar, Vladimir, Torra, Roser, Walsh, Stephen B, Gansevoort, Ron T
Publicado 2021