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European Journal of Human Genetics : EJHG|January 5, 2017
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophyXiaodong Jiao, Anren Li, Zi-Bing Jin, et al.
European Journal of Human Genetics : EJHG|January 5, 2017
Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C geneSophie C Warner, Joyce Bj van Meurs, Dieuwke Schiphof, et al.
European Journal of Human Genetics : EJHG|January 17, 2008
Singleton SNPs in the human genome and implications for genome-wide association studiesXiayi Ke, Martin S Taylor, Lon R Cardon
European Journal of Human Genetics : EJHG|May 1, 2014
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5Celia Zazo Seco, Anne M M Oonk, María Domínguez-Ruiz, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Machado-Joseph disease in a Nigerian family: mutational origin and review of the literatureShamsideen Abayomi Ogun, Sandra Martins, Philip B Adebayo, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Further confirmation of the MED13L haploinsufficiency syndromeMieke M van Haelst, Glen R Monroe, Karen Duran, et al.
European Journal of Human Genetics : EJHG|April 10, 2014
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangementsTrilochan Sahoo, Jia-Chi Wang, Mohamed M Elnaggar, et al.
European Journal of Human Genetics : EJHG|March 27, 2014
Functional characterization of BRCA1 gene variants by mini-gene splicing assayAne Y Steffensen, Mette Dandanell, Lars Jønson, et al.
European Journal of Human Genetics : EJHG|March 27, 2014
Test of rare variant association based on affected sib-pairsQiuying Sha, Shuanglin Zhang
European Journal of Human Genetics : EJHG|March 27, 2014
The phylogenetic and geographic structure of Y-chromosome haplogroup R1aPeter A Underhill, G David Poznik, Siiri Rootsi, et al.
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