Bregje W. M. Van Bon
AuthID: R-00F-MR5
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TITLE: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
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TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
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TITLE: Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015) Full Text
AUTHORS: Ockeloen, CW; Willemsen, MH; de Munnik, S; van Bon, BWM; de Leeuw, N; Verrips, A; Kant, SG; Jones, EA; Brunner, HG; van Loon, RLE; Smeets, EEJ; van Haelst, MM; van Haaften, G; Nordgren, A; Malmgren, H; Grigelioniene, G; Vermeer, S; Louro, P ; Ramos, L; Maal, TJJ; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
AUTHORS: Ockeloen, CW; Willemsen, MH; de Munnik, S; van Bon, BWM; de Leeuw, N; Verrips, A; Kant, SG; Jones, EA; Brunner, HG; van Loon, RLE; Smeets, EEJ; van Haelst, MM; van Haaften, G; Nordgren, A; Malmgren, H; Grigelioniene, G; Vermeer, S; Louro, P ; Ramos, L; Maal, TJJ; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
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TITLE: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Full Text
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
