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Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

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Description scientific article published on 11 October 2013
Author/s

author: Donatella Greco  Irene M Janssen  Joris A Veltman  Marjolein H Willemsen  Charlotte W Ockeloen  Ornella Galesi  Bregje W van Bon  Han G. Brunner  Aurelio Vitello  Arjan P M de Brouwer  Kornelia Neveling  Pinella Failla  Jayne Y Hehir-Kwa  Anneke T Vulto-van Silfhout  Ilse I G M van de Vondervoort  Santina Reitano  Marisol Del Rosario  Janneke H M Schuurs-Hoeijmakers  Michèl A A P Willemsen  Rolph Pfundt  Bert B A de Vries  Marco Fichera  Corrado Romano  Lisenka Vissers  Hans van Bokhoven  Tjitske Kleefstra  Ernie M H F Bongers  Christian Gilissen  Joep de Ligt 

Publication date October 11, 2013
Language English
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