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European Journal of Human Genetics : EJHG|November 5, 1998
Haplotype and mutation analysis in Greek patients with Wilson diseaseG Loudianos, V Dessì, M Lovicu, et al.European Journal of Human Genetics : EJHG|November 5, 1998
A new candidate region for the positional cloning of the XLP geneA Bolino, L Yin, M Seri, et al.European Journal of Human Genetics : EJHG|January 10, 2008
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaMette Gilling, Marlene Briciet Lauritsen, Morten Møller, et al.European Journal of Human Genetics : EJHG|February 13, 2002
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysisR E Lucas, C N Vlangos, P Das, et al.European Journal of Human Genetics : EJHG|February 13, 2002
Low incidence of UPD in spontaneous abortions beyond the 5th gestational weekB Fritz, M Aslan, V Kalscheuer, et al.European Journal of Human Genetics : EJHG|February 13, 2002
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafnessC Olsson, E Johnsen, M Nilsson, et al.European Journal of Human Genetics : EJHG|February 13, 2002
Teaching undergraduates about familial breast cancer: comparison of a computer assisted learning (CAL) package with a traditional tutorial approachZ Miedzybrodzka, N M Hamilton, H Gregory, et al.European Journal of Human Genetics : EJHG|December 22, 2016
Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear modelsChi-Yang Chiu, Jeesun Jung, Wei Chen, et al.European Journal of Human Genetics : EJHG|December 22, 2016
Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathyCatalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, et al.European Journal of Human Genetics : EJHG|January 5, 2017
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsyMassimiliano Rossi, Nicolas Chatron, Audrey Labalme, et al.Pageof 564