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Author/Creator Poll-The, Bwee

1. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. (December 2018)

Authors:
Dijk, Tessa; Ferdinandusse, Sacha; Ruiter, Jos; Alders, Mariëlle; Mathijssen, Inge; Parboosingh, Jillian; Innes, A.; Meijers-Heijboer, Hanne; Poll-The, Bwee; Bernier, Francois; Wanders, Ronald; Lamont, Ryan; Baas, Frank
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1752
Record Type:
Journal Article
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2. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Issue 1 (December 2016)

Authors:
Hollak, Carla; Biegstraaten, Marieke; Baumgartner, Matthias; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike; Lachmann, Robin; Langendonk, Janneke; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwe...
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗