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TITLE: Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer  Full Text
AUTHORS: Pedro Sernadela; Lorena Gonzalez Castro; Claudio Carta; Eelke van der Horst; Pedro Lopes; Rajaram Kaliyaperumal; Mark Thompson; Rachel Thompson; Nuria Queralt Rosinach; Estrella Lopez; Libby Wood; Agata Robertson; Claudia Lamanna; Mette Gilling; Michael Orth; Roxana Merino Martinez; Manuel Posada; Domenica Taruscio; Hanns Lochmuller; Peter Robinson; Marco Roos; Jose Luis Oliveira ; ...More
PUBLISHED: 2017, SOURCE: BIOMED RESEARCH INTERNATIONAL, VOLUME: 2017
INDEXED IN: Scopus WOS CrossRef: 19
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TITLE: Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders  Full Text
AUTHORS: Mette Gilling; Hanne B Rasmussen; Kirstine Calloe; Ana F Sequeira; Marta Baretto; Guiomar Oliveira; Joana Almeida; Marlene B Lauritsen; Reinhard Ullmann; Susanne E Boonen; Karen Brondum-Nielsen; Vera M Kalscheuer; Zeynep Tümer; Astrid M Vicente; Nicole Schmitt; Niels Tommerup;
PUBLISHED: 2013, SOURCE: Front. Genet. - Frontiers in Genetics, VOLUME: 4
INDEXED IN: CrossRef
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TITLE: A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia  Full Text
AUTHORS: Mette Gilling; Marlene Briciet Lauritsen; Morten Moller; Karen Friis Henriksen; Astrid Vicente ; Guiomar Oliveira ; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brondum Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tuemer; Niels Tommerup;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef