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European Journal of Human Genetics : EJHG|December 25, 2014
It is time to take timing seriously in clinical geneticsGyörgy Kosztolányi
European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C geneAmanda Smith, Dennis E Bulman, Claire Goldsmith, et al.
European Journal of Human Genetics : EJHG|November 6, 2014
Novel genomic signals of recent selection in an Ethiopian populationFasil Tekola-Ayele, Adebowale Adeyemo, Guanjie Chen, et al.
European Journal of Human Genetics : EJHG|January 15, 2020
Transcript specific regulation of expression influences susceptibility to multiple sclerosisMaria Ban, Wenjia Liao, Amie Baker, et al.
European Journal of Human Genetics : EJHG|November 8, 2020
MobiDetails: online DNA variants interpretationDavid Baux, Charles Van Goethem, Olivier Ardouin, et al.
European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
European Journal of Human Genetics : EJHG|September 3, 2020
Sex-specific genetic effects across biomarkersEmily Flynn, Yosuke Tanigawa, Fatima Rodriguez, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activityAlexander J M Blakes, Emily Gaul, Wayne Lam, et al.
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