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European Journal of Human Genetics : EJHG|January 24, 2008
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experimentManuela Priolo, Angela Sparago, Corrado Mammì, et al.
European Journal of Human Genetics : EJHG|February 6, 2014
Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findingsErin Turbitt, Michelle M Wiest, Jane L Halliday, et al.
European Journal of Human Genetics : EJHG|February 27, 2014
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasiaChristine Hofmann, Hermann Girschick, Etienne Mornet, et al.
European Journal of Human Genetics : EJHG|February 2, 2017
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United KingdomHimanshu Chheda, Priit Palta, Matti Pirinen, et al.
European Journal of Human Genetics : EJHG|February 2, 2017
Loss of Function of KCNC1 is associated with intellectual disability without seizuresKarine Poirier, Géraldine Viot, Laura Lombardi, et al.
European Journal of Human Genetics : EJHG|February 2, 2017
Reconstructing the population history of the largest tribe of India: the Dravidian speaking GondGyaneshwer Chaubey, Rakesh Tamang, Erwan Pennarun, et al.
European Journal of Human Genetics : EJHG|January 19, 2017
Characterising private and shared signatures of positive selection in 37 Asian populationsXuanyao Liu, Dongsheng Lu, Woei-Yuh Saw, et al.
European Journal of Human Genetics : EJHG|January 26, 2017
Signatures of human European Palaeolithic expansion shown by resequencing of non-recombining X-chromosome segmentsPierpaolo Maisano Delser, Rita Neumann, Stéphane Ballereau, et al.
European Journal of Human Genetics : EJHG|January 12, 2017
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseasesJacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, et al.
European Journal of Human Genetics : EJHG|March 28, 2019
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish populationDaniel L Polla, Elisa Rahikkala, Michaela K Bode, et al.
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