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European Journal of Human Genetics : EJHG|November 24, 2011
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell functionSachiko Homma, Jennifer C J Chen, Fedik Rahimov, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Sephardic signature in haplogroup T mitochondrial DNAFelice L Bedford
European Journal of Human Genetics : EJHG|January 12, 2012
A large duplication involving the IHH locus mimics acrocallosal syndromeMemnune Yuksel-Apak, Nina Bögershausen, Barbara Pawlik, et al.
European Journal of Human Genetics : EJHG|August 18, 2011
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutationVictoria Viart, Marie Des Georges, Mireille Claustres, et al.
European Journal of Human Genetics : EJHG|August 18, 2011
Identification and functional analysis of novel THAP1 mutationsKatja Lohmann, Nils Uflacker, Alev Erogullari, et al.
European Journal of Human Genetics : EJHG|August 25, 2011
No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann SyndromeSusanne E Boonen, Johanne M D Hahnemann, Deborah Mackay, et al.
European Journal of Human Genetics : EJHG|July 14, 2011
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disordersXudong Liu, Patrick Malenfant, Chelsea Reesor, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 geneFranco Laccone, Katharina Schoner, Birgit Krabichler, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytesSamira Ibala-Romdhane, Mohamed Al-Khtib, Rita Khoueiry, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementSara J Bowne, Marian M Humphries, Lori S Sullivan, et al.
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