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European Journal of Human Genetics : EJHG|December 5, 2013
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studiesTim Beck, Robert K Hastings, Sirisha Gollapudi, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
A fast multilocus test with adaptive SNP selection for large-scale genetic-association studiesHan Zhang, Jianxin Shi, Faming Liang, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutationsSoara Menabò, Seher Polat, Lilia Baldazzi, et al.
European Journal of Human Genetics : EJHG|September 26, 2013
Incidental findings: the time is not yet ripe for a policy for biobanksJennifer Viberg, Mats G Hansson, Sophie Langenskiöld, et al.
European Journal of Human Genetics : EJHG|September 5, 2013
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exonSaiqa Yasmeen, Katrine Lund, Anne De Paepe, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunctionDario Degiorgio, Paola A Corsetto, Angela M Rizzo, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)Mireille Claustres, Viktor Kožich, Els Dequeker, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a modelJulien Tarabeux, Bruno Zeitouni, Virginie Moncoutier, et al.
European Journal of Human Genetics : EJHG|August 15, 2013
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutationShery Thomas, Mervyn G Thomas, Caroline Andrews, et al.
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