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Author/Creator Schuurs-Hoeijmakers, Janneke

1. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Issue 8 (13th April 2016)

Authors:
Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, M...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 8(2016)
Page Start:
523
Record Type:
Journal Article
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2. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018)

Authors:
Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen...
Journal:
European journal of human genetics
Issue:
Volume 26:Number 1(2018)
Page Start:
54
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗