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ELN gene triplication responsible for familial supravalvular aortic aneurysm.
Published in:
Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
By:
- Guemann, Anne-Sophie;
- Andrieux, Joris;
- Petit, Florence;
- Halimi, Emmanuel;
- Bouquillon, Sonia;
- Manouvrier-Hanu, Sylvie;
- Van De Kamp, Jiddeke;
- Boileau, Catherine;
- Hanna, Nadine;
- Jondeau, Guillaume;
- Vaksmann, Guy;
- Houfflin-Debarge, Veronique;
- Holder-Espinasse, Muriel
Publication type:
Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Published in:
Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
By:
- DOOFNL Consortium;
- Beynon, Andy J.;
- Admiraal, Ronald J. C.;
- Lanting, Cornelis P.;
- Smits, Jeroen J.;
- Oostrik, Jaap;
- Pennings, Ronald J. E.;
- Kremer, Hannie;
- Schraders, Margit;
- Yntema, Helger G.;
- Kant, Sarina G.;
- de Koning Gans, Pia A. M.;
- Rotteveel, Liselotte J. C.;
- Klein Wassink-Ruiter, Jolien S.;
- Free, Rolien H.;
- Maas, Saskia M.;
- van de Kamp, Jiddeke;
- Merkus, Paul;
- Koole, Wouter;
- Feenstra, Ilse
Publication type:
Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
2009
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Article
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 217, doi. 10.1002/jmd2.12359
By:
- Rumping, Lynne;
- Pouwels, Petra J. W.;
- Wolf, Nicole I.;
- Rehmann, Holger;
- Wamelink, Mirjam M. C.;
- Waisfisz, Quinten;
- Jans, Judith J. M.;
- Prinsen, Hubertus C. M. T.;
- van de Kamp, Jiddeke M.;
- van Hasselt, Peter M.
Publication type:
Article
Dodecyl creatine ester therapy: from promise to reality.
Published in:
Cellular & Molecular Life Sciences, 2024, v. 81, n. 1, p. 1, doi. 10.1007/s00018-024-05218-y
By:
- Mabondzo, Aloïse;
- van de Kamp, Jiddeke;
- Mercimek-Andrews, Saadet
Publication type:
Article
Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals.
Published in:
Clinical Chemistry, 2015, v. 61, n. 5, p. 760, doi. 10.1373/clinchem.2014.235564
By:
- Mørkrid, Lars;
- Rowe, Alexander D.;
- Elgstoen, Katja B. P.;
- Olesen, Jess H.;
- Ruijter, George;
- Hall, Patricia L.;
- Tortorelli, Silvia;
- Schulze, Andreas;
- Kyriakopoulou, Lianna;
- Wamelink, Mirjam M. C.;
- M. van de Kamp, Jiddeke;
- Salomons, Gajja S.;
- Rinaldo, Piero
Publication type:
Article
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.
Published in:
Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
By:
- van de Kamp, Jiddeke M.;
- Bökenkamp, Arend;
- Smith, Desiree E. C.;
- Wamelink, Mirjam M. C.;
- Jansen, Erwin E. W.;
- Struys, Eduard A.;
- Waisfisz, Quinten;
- Verkleij, Marieke;
- Hartmann, Michaela F.;
- Wang, Rong;
- Wudy, Stefan A.;
- Paganini, Chiara;
- Rossi, Antonio;
- Finken, Martijn J. J.
Publication type:
Article
Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 553, doi. 10.1002/jimd.12055
By:
- Vals, Mari‐Anne;
- Ashikov, Angel;
- Ilves, Pilvi;
- Loorits, Dagmar;
- Zeng, Qiang;
- Barone, Rita;
- Huijben, Karin;
- Sykut‐Cegielska, Jolanta;
- Diogo, Luísa;
- Elias, Abdallah F.;
- Greenwood, Robert S.;
- Grunewald, Stephanie;
- van Hasselt, Peter M.;
- van de Kamp, Jiddeke M.;
- Mancini, Grazia;
- Okninska, Agnieszka;
- Pajusalu, Sander;
- Rudd, Pauline M.;
- Rustad, Cecilie F.;
- Salvarinova, Ramona
Publication type:
Article
The role of the clinician in the multi-omics era: are you ready?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
By:
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- Tarailo-Graovac, Maja;
- Langeveld, Mirjam;
- Ferreira, Carlos R.;
- van de Kamp, Jiddeke M.;
- Hollak, Carla E.;
- Wasserman, Wyeth W.;
- Waterham, Hans R.;
- Wevers, Ron A.;
- Haack, Tobias B.;
- Wanders, Ronald J.A.;
- Boycott, Kym M.
Publication type:
Article
Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux.
Published in:
Pediatric Nephrology, 2007, v. 22, n. 8, p. 1129, doi. 10.1007/s00467-007-0492-4
By:
- van Eerde, Albertien M.;
- Koeleman, Bobby P. C.;
- van de Kamp, Jiddeke M.;
- de Jong, Tom P. V. M.;
- Wijmenga, Cisca;
- Giltay, Jacques C.
Publication type:
Article
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 19, p. 1785, doi. 10.1093/hmg/ddab145
By:
- Bassani, Sissy;
- Beelen, Edward van;
- Rossel, Mireille;
- Voisin, Norine;
- Morgan, Anna;
- Arribat, Yoan;
- Chatron, Nicolas;
- Chrast, Jacqueline;
- Cocca, Massimiliano;
- Delprat, Benjamin;
- Faletra, Flavio;
- Giannuzzi, Giuliana;
- Guex, Nicolas;
- Machavoine, Roxane;
- Pradervand, Sylvain;
- Smits, Jeroen J;
- Kamp, Jiddeke M van de;
- Ziegler, Alban;
- Amati, Francesca;
- Marlin, Sandrine
Publication type:
Article

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