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Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?
Published in:
Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 11, p. 2036, doi. 10.1111/aogs.14256
By:
- Srebniak, Malgorzata I.;
- Jehee, Fernanda S.;
- Joosten, Marieke;
- Boter, Marjan;
- de Valk, Walter G.;
- van der Helm, Robert;
- Sistermans, Erik A.;
- Voorhoeve, Els;
- Bhola, Shama;
- Hoffer, Mariette J. V.;
- den Hollander, Nicolette;
- Macville, Merryn V. E.;
- Van Opstal, Diane
Publication type:
Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
By:
- Beunders, Gea;
- de Munnik, Sonja A;
- Van der Aa, Nathalie;
- Ceulemans, Berten;
- Voorhoeve, Els;
- Groffen, Alexander J;
- Nillesen, Willy M;
- Meijers-Heijboer, Elizabeth J;
- Frank Kooy, R;
- Yntema, Helger G;
- Sistermans, Erik A
Publication type:
Article
A case of pulmonary alveolar microlithiasis associated with a homozygous 195 kb deletion encompassing the entire SLC34A2 gene.
Published in:
Clinical Case Reports, 2016, v. 4, n. 4, p. 412, doi. 10.1002/ccr3.532
By:
- Stokman, Lara;
- Nossent, Esther J.;
- Grunberg, Katrien;
- Meijboom, Lilian;
- Yakicier, Mustafa C.;
- Voorhoeve, Els;
- Houweling, Arjan C.
Publication type:
Article
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Published in:
International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
By:
- Kiewiet, Gea;
- Westra, Dineke;
- de Boer, Eddy N.;
- van Berkel, Emma;
- Hofste, Tom G. J.;
- van Zweeden, Martine;
- Derks, Ronny C.;
- Leijsten, Nico F. A.;
- Ruiterkamp-Versteeg, Martina H. A.;
- Charbon, Bart;
- Johansson, Lennart;
- Bos-Kruizinga, Janneke;
- Veenstra, Inge J.;
- de Sain-van der Velden, Monique G. M.;
- Voorhoeve, Els;
- Heiner-Fokkema, M. Rebecca;
- van Spronsen, Francjan;
- Sikkema-Raddatz, Birgit;
- Nelen, Marcel
Publication type:
Article
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Published in:
International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 17, doi. 10.3390/ijns8010017
By:
- Veldman, Abigail;
- Kiewiet, Mensiena B. G.;
- Heiner-Fokkema, Margaretha Rebecca;
- Nelen, Marcel R.;
- Sinke, Richard J.;
- Sikkema-Raddatz, Birgit;
- Voorhoeve, Els;
- Westra, Dineke;
- Dollé, Martijn E. T.;
- Schielen, Peter C. J. I.;
- van Spronsen, Francjan J.
Publication type:
Article
Does non‐invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population‐based register study.
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1351, doi. 10.1002/pd.6003
By:
- de Groot‐van der Mooren, Maurike;
- de Graaf, Gert;
- Weijerman, Michel E;
- Hoffer, Mariette J. V;
- Knijnenburg, Jeroen;
- van der Kevie‐Kersemaekers, Anne‐Marie M. F;
- Kooper, Angelique J. A;
- Voorhoeve, Els;
- Sikkema‐Raddatz, Birgit;
- van Zutven, Laura J. C. M;
- Srebniak, Malgorzata Ilona;
- Huijsdens‐van Amsterdam, Karin;
- Engelen, John J. M;
- Smeets, Dominique;
- van Kaam, Anton H;
- Cornel, Martina C
Publication type:
Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Published in:
Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
By:
- Overwater, Eline;
- Marsili, Luisa;
- Baars, Marieke J. H.;
- Baas, Annette F.;
- van de Beek, Irma;
- Dulfer, Eelco;
- van Hagen, Johanna M.;
- Hilhorst‐Hofstee, Yvonne;
- Kempers, Marlies;
- Krapels, Ingrid P.;
- Menke, Leonie A.;
- Verhagen, Judith M. A.;
- Yeung, Kak K.;
- Zwijnenburg, Petra J. G.;
- Groenink, Maarten;
- van Rijn, Peter;
- Weiss, Marjan M.;
- Voorhoeve, Els;
- van Tintelen, J. Peter;
- Houweling, Arjan C.
Publication type:
Article
The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations.
Published in:
Annals of Neurology, 1994, v. 36, n. 3, p. 434, doi. 10.1002/ana.410360315
By:
- Haan, Joost;
- Van Broeckhoven, Christine;
- Van Duijn, Cornelia M.;
- Voorhoeve, Els;
- van Harskamp, Frans;
- van Swieten, John C.;
- Maat-Schieman, Marion L. C.;
- Roos, Raymund A. C.;
- Bakker, Egbert
Publication type:
Article

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