Concepedia
Statistics
Publications
6
Citations
567
H-Index
Active since
1997
Affiliations
Erasmus MC(Current)
Erasmus University Rotterdam
Erasmus MC - Sophia Children’s Hospital
Radboud University Nijmegen
Radboud University Medical Center
R.M. van der Helm is an author at Erasmus MC specializing in genetics, medical genetics, and life sciences.
Publications per year
1997–2017
Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections
Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki et al. · Journal of the American College of Cardiology · 2015 · 297 citations · Full text
Medicine, Cardiology, Genetics +16
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
George J. G. Ruijter, M. J. Valstar, Jiddeke M. van de Kamp et al. · Molecular Genetics and Metabolism · 2007 · 150 citations
Life Sciences, Genetics, Genetic Epidemiology +9
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
Wim J. Kleijer, J. L. M. Keulemans, Magna Van der Kraan et al. · Journal of Inherited Metabolic Disease · 1997 · 39 citations · Full text
Life Sciences, Genetics, Molecular Genetics +7
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Erwin Brosens, H. J. Eussen, Yolande van Bever et al. · Molecular Syndromology · 2012 · 33 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Erwin Brosens, Florian Marsch, Elisabeth M. de Jong et al. · European Journal of Human Genetics · 2016 · 33 citations · Full text
Medicine, Clinical Sciences, Gastroenterology +6
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