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Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12222, doi. 10.3390/ijms222212222
By:
- 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.
Publication type:
Article
Gain of glycosylation in integrin a3 causes lung disease and nephrotic syndrome.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4375, doi. 10.1172/JCI64100
By:
- Nicolaou, Nayia;
- Margadant, Coert;
- Kevelam, Sietske H.;
- Lilien, Marc R.;
- Oosterveld, Michiel J.S.;
- Kreft, Maaike;
- van Eerde, Albertien M.;
- Pfundt, Rolph;
- Terhal, Paulien A.;
- Zwaag, Bert van der;
- Nikkels, Peter G.J.;
- Sachs, Norman;
- Goldschmeding, Roel;
- Knoers, Nine V.A.M.;
- Renkema, Kirsten Y.;
- Sonnenberg, Arnoud
Publication type:
Article
Three‐dimensional facial morphology in Cantú syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1041, doi. 10.1002/ajmg.a.61517
By:
- Roessler, Helen I.;
- Shields, Kathleen;
- Grange, Dorothy K.;
- Knoers, Nine V.A.M.;
- Haaften, Gijs;
- Hammond, Peter;
- Haelst, Mieke M.
Publication type:
Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Published in:
Nature Genetics, 2001, v. 29, n. 3, p. 310
By:
- Birkenhäger, Ralf;
- Otto, Edgar;
- Schürmann, Maria J.;
- Vollmer, Martin;
- Ruf, Eva-Maria;
- Maier-Lutz, Irina;
- Beekmann, Frank;
- Fekete, Andrea;
- Omran, Heymut;
- Feldmann, Delphine;
- Milford, David V.;
- Jeck, Nicola;
- Konrad, Martin;
- Landau, Daniel;
- Knoers, Nine V.A.M.;
- Antignac, Corinne;
- Sudbrak, Ralf;
- Kispert, Andreas;
- Hildebrandt, Friedhelm
Publication type:
Article
Dominant isolated renal magnesium loss is caused by misrouting of the Na<sup>+</sup>,K<sup>+</sup>-ATPase γ-subunit.
Published in:
Nature Genetics, 2000, v. 26, n. 3, p. 265, doi. 10.1038/81543
By:
- Meij, Iwan C.;
- Koenderink, Jan B.;
- van Bokhoven, Hans;
- Assink, Karin F.H.;
- Tiel Groenestege, Wouter;
- de Pont, Jan Joep H.H.M.;
- Bindels, René J.M.;
- Monnens, Leo A.H.;
- van den Heuvel, Lambert P.W.J.;
- Knoers, Nine V.A.M.
Publication type:
Article
Risk factors for different phenotypes of hypospadias: results from a Dutch case-control study.
Published in:
BJU International, 2013, v. 112, n. 1, p. 121, doi. 10.1111/j.1464-410X.2012.11745.x
By:
- Rooij, Iris A.L.M.;
- Zanden, Loes F.M.;
- Brouwers, Marijn M.;
- Knoers, Nine V.A.M.;
- Feitz, Wout F.J.;
- Roeleveld, Nel
Publication type:
Article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
Published in:
American Journal of Hematology, 2014, v. 89, n. 3, p. 315, doi. 10.1002/ajh.23616
By:
- Campagna, Dean R.;
- Bie, Charlotte I.;
- Schmitz-Abe, Klaus;
- Sweeney, Marion;
- Sendamarai, Anoop K.;
- Schmidt, Paul J.;
- Heeney, Matthew M.;
- Yntema, Helger G.;
- Kannengiesser, Caroline;
- Grandchamp, Bernard;
- Niemeyer, Charlotte M.;
- Knoers, Nine V.A.M.;
- Swart, Sonia;
- Marron, Gordon;
- Wijk, Richard;
- Raymakers, Reinier A.;
- May, Alison;
- Markianos, Kyriacos;
- Bottomley, Sylvia S.;
- Swinkels, Dorine W.
Publication type:
Article
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
Published in:
2015
By:
- van der Made, Cas I.;
- Hoorn, Ewout J.;
- de la Faille, Renaud;
- Karaaslan, Huseyin;
- Knoers, Nine V.a.M.;
- Hoenderop, Joost G.J.;
- Vargas Poussou, Rosa;
- de Baaij, Jeroen H.F.
Publication type:
journal article
Massively parallel sequencing of ataxia genes after array-based enrichment.
Published in:
Human Mutation, 2010, v. 31, n. 4, p. 494, doi. 10.1002/humu.21221
By:
- Hoischen, Alexander;
- Gilissen, Christian;
- Arts, Peer;
- Wieskamp, Nienke;
- van der Vliet, Walter;
- Vermeer, Sascha;
- Steehouwer, Marloes;
- de Vries, Petra;
- Meijer, Rowdy;
- Seiqueros, Jorge;
- Knoers, Nine V.A.M.;
- Buckley, Michael F.;
- Scheffer, Hans;
- Veltman, Joris A.
Publication type:
Article
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
Published in:
Nephrology Dialysis Transplantation, 2015, v. 30, n. 6, p. 952, doi. 10.1093/ndt/gfv014
By:
- de Baaij, Jeroen H.F.;
- Dorresteijn, Eiske M.;
- Hennekam, Eric A.M.;
- Kamsteeg, Erik-Jan;
- Meijer, Rowdy;
- Dahan, Karin;
- Muller, Michelle;
- van den Dorpel, Marinus A.;
- Bindels, René J.M.;
- Hoenderop, Joost G.J.;
- Devuyst, Olivier;
- Knoers, Nine V.A.M.
Publication type:
Article
New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.
Published in:
Nephrology Dialysis Transplantation, 2013, v. 28, n. 7, p. 1830, doi. 10.1093/ndt/gfs572
By:
- Hofstra, Julia M.;
- Lainez, Sergio;
- van Kuijk, Willie H.M.;
- Schoots, Jeroen;
- Baltissen, Marijke P.A.;
- Hoefsloot, Lies H.;
- Knoers, Nine V.A.M.;
- Berden, Jo H.M.;
- Bindels, René J.M.;
- van der Vlag, Johan;
- Hoenderop, Joost G.J.;
- Wetzels, Jack F.M.;
- Nijenhuis, Tom
Publication type:
Article
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
Published in:
Nephrology Dialysis Transplantation, 2011, v. 26, n. 12, p. 3843
By:
- Renkema, Kirsten Y.;
- Winyard, Paul J.;
- Skovorodkin, Ilya N.;
- Levtchenko, Elena;
- Hindryckx, An;
- Jeanpierre, Cécile;
- Weber, Stefanie;
- Salomon, Rémi;
- Antignac, Corinne;
- Vainio, Seppo;
- Schedl, Andreas;
- Schaefer, Franz;
- Knoers, Nine V.A.M.;
- Bongers, Ernie M.H.F.
Publication type:
Article
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Published in:
Kidney International, 1998, v. 54, n. 3, p. 720, doi. 10.1046/j.1523-1755.1998.00070.x
By:
- Lemmink, Henny H.;
- Knoers, Nine V.A.M.;
- Károlyi, Lothar;
- van Dijk, Henk;
- Niaudet, Patrick;
- Antignac, Corinne;
- Guay-Woodford, Lisa M.;
- Goodyer, Paul R.;
- Carel, Jean-Claude;
- Hermes, Ad;
- Seyberth, Hansjörg W.;
- Monnens, Leo A. H.;
- van den Heuvel, Lambert P.W.J.
Publication type:
Article

Found: 13