1-3 of 3
Authors: Helle Hjalgrim
Journal Article
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly Get access
Human Molecular Genetics, Volume 24, Issue 8, 15 April 2015, Pages 2218–2227, https://doi.org/10.1093/hmg/ddu740
Published: 30 December 2014
Journal Article
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Get access
Human Molecular Genetics, Volume 21, Issue 24, 15 December 2012, Pages 5359–5372, https://doi.org/10.1093/hmg/dds373
Published: 04 September 2012
Journal Article
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation Get access
Human Molecular Genetics, Volume 10, Issue 15, 15 July 2001, Pages 1591–1600, https://doi.org/10.1093/hmg/10.15.1591
Published: 15 July 2001
