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European Journal of Human Genetics : EJHG|October 10, 2018
The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertilityBiaobang Chen, Wenjing Wang, Xiandong Peng, et al.
European Journal of Human Genetics : EJHG|March 24, 2022
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disabilityAlejandro J Brea-Fernández, Miriam Álvarez-Barona, Jorge Amigo, et al.
European Journal of Human Genetics : EJHG|February 26, 2022
An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypesZachary F Gerring, Jackson G Thorp, Eric R Gamazon, et al.
European Journal of Human Genetics : EJHG|March 10, 2022
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods studyMichelle Peter, Jennifer Hammond, Saskia C Sanderson, et al.
European Journal of Human Genetics : EJHG|March 7, 2022
Exploring the ethics of genetic prioritisation for COVID-19 vaccinesJago Bruce, Stephanie B Johnson
European Journal of Human Genetics : EJHG|August 10, 2018
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendationsPascal Pujol, Pierre Vande Perre, Laurence Faivre, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosisPhilip Farrell, Claude Férec, Milan Macek, et al.
European Journal of Human Genetics : EJHG|August 10, 2018
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63Ashley P L Marsh, Gaia Novarino, Paul J Lockhart, et al.
European Journal of Human Genetics : EJHG|December 22, 1999
The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene clusterM Neerman-Arbez, S E Antonarakis, A Honsberger, et al.
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