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D'Otreppe De Bouvette Stéphanie

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Main Referenced Co-authors
Boemer, François  (1)
Bours, Vincent  (1)
Bulk, Saskia  (1)
Caberg, Jean-Hubert  (1)
Capraro, Valérie  (1)
Main Referenced Keywords
cardiac biomarkers (1); cycling (1); renal function markers (1); stress biomarkers (1);
Main Referenced Disciplines
Genetics & genetic processes (3)
Laboratory medicine & medical technology (1)
Orthopedics, rehabilitation & sports medicine (1)

Publications (total 4)

The most downloaded
224 downloads
BOEMER, F., Fasquelle, C., D'OTREPPE DE BOUVETTE, S., JOSSE, C., DIDEBERG, V., SEGERS, K., GUISSARD, V., CAPRARO, V., Debray, F.-G., & Bours, V. (2017). A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. Scientific Reports, 7 (1), 17641. doi:10.1038/s41598-017-18038-x https://hdl.handle.net/2268/218723

The most cited

33 citations (OpenAlex)

BOEMER, F., Fasquelle, C., D'OTREPPE DE BOUVETTE, S., JOSSE, C., DIDEBERG, V., SEGERS, K., GUISSARD, V., CAPRARO, V., Debray, F.-G., & Bours, V. (2017). A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. Scientific Reports, 7 (1), 17641. doi:10.1038/s41598-017-18038-x https://hdl.handle.net/2268/218723

JAMAR, M., HARVENGT, J., D'OTREPPE DE BOUVETTE, S., Florkin, B., & MENTEN, C. (September 2018). Diagnostic moléculaire par CGH-array + SNP d'un cas d'Anémie de Fanconi [Poster presentation]. XXIVe Colloque Association des Cytogénéticiens de Langue Française (ACLF), Saint-Malo, France.

D'OTREPPE DE BOUVETTE, S., Lombet, J., Tebache, M., CABERG, J.-H., & BULK, S. (16 February 2018). Another case of Galloway-Mowat syndrome associated with a biallelic mutation of the OSGEP gene [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium.

BOEMER, F., Fasquelle, C., D'OTREPPE DE BOUVETTE, S., JOSSE, C., DIDEBERG, V., SEGERS, K., GUISSARD, V., CAPRARO, V., Debray, F.-G., & Bours, V. (2017). A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases. Scientific Reports, 7 (1), 17641. doi:10.1038/s41598-017-18038-x
Peer Reviewed verified by ORBi

LE GOFF, C., Kaux, J.-F., D'OTREPPE DE BOUVETTE, S., Goffaux, S., Fillet, M., Chapelle, J.-P., & Cavalier, E. (August 2016). Release of cardiac biomarkers during a cycling race. World Journal of Cardiovascular Diseases, 6 (8), 285-294.
Peer reviewed

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