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European Journal of Human Genetics : EJHG|February 18, 2018
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disordersOliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
A randomized controlled study of a consent intervention for participating in an NIH genome sequencing studyErin Turbitt, Paola P Chrysostomou, Holly L Peay, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndromeM P Hitchins, D Monk, G M Bell, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineagesL Kalaydjieva, F Calafell, M A Jobling, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor regionB E Baysal, J E Willett-Brozick, P E Taschner, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
The impact of genotyping error on family-based analysis of quantitative traitsG R Abecasis, S S Cherny, L R Cardon
European Journal of Human Genetics : EJHG|April 21, 2001
Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genomeC R Hollies, D G Monckton, A J Jeffreys
European Journal of Human Genetics : EJHG|April 21, 2001
Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI)R F Kooy, M Verhoye, V Lemmon, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation patternJ B Nielsen, K F Henriksen, C Hansen, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effectsS W Horsley, R J Daniels, E Anguita, et al.
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