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European Journal of Human Genetics : EJHG|December 12, 2022
Pathogenic REST variant causing Jones syndrome and a review of the literatureElisa Rahikkala, Johanna Julku, Sari Koskinen, et al.
European Journal of Human Genetics : EJHG|June 27, 2022
The genetic and evolutionary determinants of COVID-19 susceptibilityGaspard Kerner, Lluis Quintana-Murci
European Journal of Human Genetics : EJHG|February 1, 2020
Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview studyCeline Lewis, Saskia Sanderson, Melissa Hill, et al.
European Journal of Human Genetics : EJHG|February 1, 2020
Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and ASMasoud Garshasbi, Mahdi Mahmoudi, Ehsan Razmara, et al.
European Journal of Human Genetics : EJHG|March 29, 2020
High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumorsRyota Shirai, Tomoo Osumi, Keita Terashima, et al.
European Journal of Human Genetics : EJHG|July 16, 2021
Allele frequency differentiation at height-associated SNPs among continental human populationsMinhui Chen, Charleston W K Chiang
European Journal of Human Genetics : EJHG|December 8, 2020
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosisElin Tønne, Bernt Johan Due-Tønnessen, Inger-Lise Mero, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?Niki M Medendorp, Marij A Hillen, Leonie N C Visser, et al.
European Journal of Human Genetics : EJHG|October 4, 2020
Assessment and visualization of phenome-wide causal relationships using genetic data: an application to dental caries and periodontitisSimon Haworth, Pik Fang Kho, Pernilla Lif Holgerson, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
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