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European Journal of Medical Genetics|January 28, 2014
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephalySarah Grotto, Valérie Drouin-Garraud, Katrin Ounap, et al.
Arthritis Research & Therapy|December 11, 2012
Meta-analysis identified the TNFA -308G > A promoter polymorphism as a risk factor for disease severity in patients with rheumatoid arthritisErik J M Toonen, Pilar Barrera, Jaap Fransen, et al.
European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.
Neurology|July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transportMiski Mohamed, Angel Ashikov, Mailys Guillard, et al.
Archives of Medical Research|March 6, 2012
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disabilityZafar Iqbal, Kornelia Neveling, Attia Razzaq, et al.
European Journal of Medical Genetics|March 1, 2015
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphologyAnja E Pen, Mette Nyegaard, Mingyan Fang, et al.
Human Mutation|May 13, 2008
Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo L M Marcelis, Frans A Hol, Gail E Graham, et al.
Journal of Medical Genetics|May 10, 2014
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic functionMarjolein H Willemsen, Wei Ba, Willemijn M Wissink-Lindhout, et al.
Stem Cell Research|May 13, 2024
Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1Lieke Dillen, Neelam Fatima, Marina P Hommersom, et al.
European Journal of Human Genetics : EJHG|June 26, 2008
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancerRob W J Collin, Anne-Martine R de Heer, Jaap Oostrik, et al.
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