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Author/Creator van der Smagt, Jasper J

1. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. Issue 3 (1st March 2000)

Authors:
Petrij, Fred; Dauwerse, Hans G; Blough, Ruthann I; Giles, Rachel H; van der Smagt, Jasper J; Wallerstein, Robert; Maaswinkel-Mooy, Petra D; van Karnebeek, Clara D; van Ommen, Gert-Jan B; van Haeringen, Arie; Rubinstein, Jack H; Saal, Howard M; Hennekam, Raoul C M; Peters, Dorien J M; Breuning, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 3(2000)
Page Start:
168
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017)

Authors:
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
460
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Heritability in genetic heart disease: the role of genetic background. Issue 1 (28th May 2019)

Authors:
Jansweijer, Joeri A; van Spaendonck-Zwarts, Karin Y; Tanck, Michael W T; van Tintelen, J Peter; Christiaans, Imke; van der Smagt, Jasper J; Vermeer, Alexa M C; Bos, J Martijn; Moss, Arthur J; Swan, Heikki; Priori, Sylvia G; Rydberg, Annika; Tfelt-Hansen, Jacob; Ackerman, Michael J; Olivotto, Iaco...
Journal:
Open heart
Issue:
Volume 6:Issue 1(2019)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗