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European Journal of Human Genetics : EJHG|April 3, 2020
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmissionBashayer R Al-Mubarak, Aisha Omar, Batoul Baz, et al.
European Journal of Human Genetics : EJHG|October 2, 2020
Taste perception and lifestyle: insights from phenotype and genome data among Africans and AsiansAgnès E Sjöstrand, Per Sjödin, Tatyana Hegay, et al.
European Journal of Human Genetics : EJHG|December 17, 2020
A human case of GIMAP6 deficiency: a novel primary immune deficiencyBella Shadur, Nathalie Asherie, Shlomit Kfir-Erenfeld, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriersIsabella Garagiola, Mimosa Mortarino, Simona Maria Siboni, et al.
European Journal of Human Genetics : EJHG|December 4, 2020
Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating populationDaniel E Platt, Hovig Artinian, Francis Mouzaya, et al.
European Journal of Human Genetics : EJHG|November 1, 2020
Estimation of the number of people with Down syndrome in EuropeGert de Graaf, Frank Buckley, Brian G Skotko
European Journal of Human Genetics : EJHG|December 9, 2020
SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndromeGou Yamamoto, Izumi Miyabe, Keisuke Tanaka, et al.
European Journal of Human Genetics : EJHG|March 16, 2021
Mainstream genetic testing for breast cancer patients: early experiences from the Parkville Familial Cancer CentreCatherine Beard, Katrina Monohan, Linda Cicciarelli, et al.
European Journal of Human Genetics : EJHG|March 17, 2021
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolatesBeatrice Spedicati, Massimiliano Cocca, Roberto Palmisano, et al.
European Journal of Human Genetics : EJHG|January 26, 2021
Semi-parametric empirical Bayes factor for genome-wide association studiesJunji Morisawa, Takahiro Otani, Jo Nishino, et al.
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