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Author/Creator Santen, Gijs W E

1. Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia. Issue 9 (11th September 2012)

Authors:
Nielsen, Maartje; Vermont, Clementien L; Aten, Emmelien; Ruivenkamp, Claudia A L; van Herrewegen, Femke; Santen, Gijs W E; Breuning, Martijn H
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 9(2012)
Page Start:
598
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus. Issue 6 (25th May 2012)

Authors:
Santen, Gijs W E; Sun, Yu; Gijsbers, Antoinet C J; Carré, Aurore; Holvoet, Maureen; Haeringen, Arie van; Lesnik Oberstein, Saskia A J; Tomoda, Akemi; Mabe, Hiroyo; Polak, Michel; Devriendt, Koenraad; Ruivenkamp, Claudia A L; Bijlsma, Emilia K
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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