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European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screeningMaria Loane, Joan K Morris, Marie-Claude Addor, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
Toward a roadmap in global biobanking for healthJennifer R Harris, Paul Burton, Bartha Maria Knoppers, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
Developing a policy for paediatric biobanks: principles for good practiceKristien Hens, Carla E Van El, Pascal Borry, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
RNA-Seq and human complex diseases: recent accomplishments and future perspectivesValerio Costa, Marianna Aprile, Roberta Esposito, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elementsLila Allou, Laetitia Lambert, Daniel Amsallem, et al.
European Journal of Human Genetics : EJHG|July 6, 2012
MLH1 methylation screening is effective in identifying epimutation carriersMarta Pineda, Pilar Mur, María Dolores Iniesta, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
No evidence for increased mortality in SDHD variant carriers compared with the general populationLeonie T van Hulsteijn, Berdine Heesterman, Jeroen C Jansen, et al.
European Journal of Human Genetics : EJHG|February 26, 2015
GWAS with longitudinal phenotypes: performance of approximate proceduresKarolina Sikorska, Nahid Mostafavi Montazeri, André Uitterlinden, et al.
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