Publications by authors named "Mette Gilling"

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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.
Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Mette Gilling

Biomed Res Int· July 2018

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Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
Mette Gilling, Hanne B Rasmussen, Kirstine Calloe, Ana F Sequeira, Marta Baretto

Front Genet· April 2013

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Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
Mette Gilling, Allan Lind-Thomsen, Yuan Mang, Mads Bak, Morten Møller

Eur J Med Genet· October 2011

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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Mette Gilling, Marlene Briciet Lauritsen, Morten Møller, Karen Friis Henriksen, Astrid Vicente

Eur J Hum Genet· March 2008

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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
Mette Gilling, Jörn S Dullinger, Stefan Gesk, Simone Metzke-Heidemann, Reiner Siebert

Am J Hum Genet· May 2006

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