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European Journal of Human Genetics : EJHG|June 11, 2015
The use of whole-exome sequencing to disentangle complex phenotypesHywel J Williams, John R Hurst, Louise Ocaka, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genesLaura Andreasen, Gustav Ahlberg, Chuyi Tang, et al.
European Journal of Human Genetics : EJHG|February 4, 2018
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchersSabina Gainotti, Paola Torreri, Chiuhui Mary Wang, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmiasAnders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, et al.
European Journal of Human Genetics : EJHG|January 20, 2018
Effect of deliberation on the public's attitudes toward consent policies for biobank researchTom Tomlinson, Raymond G De Vries, H Myra Kim, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsyDheeraj R Bobbili, Dennis Lal, Patrick May, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndromeAndrew R Mitz, Travis J Philyaw, Luigi Boccuto, et al.
European Journal of Human Genetics : EJHG|January 13, 2018
Human germline gene editing: Recommendations of ESHG and ESHREGuido de Wert, Guido Pennings, Angus Clarke, et al.
European Journal of Human Genetics : EJHG|January 25, 2018
Genetic variant in CACNA1C is associated with PTSD in traumatized police officersIzabela M Krzyzewska, Judith B M Ensink, Laura Nawijn, et al.
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