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European Journal of Human Genetics : EJHG|February 7, 2013
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysisBlanka Stiburkova, Ivan Sebesta, Kimiyoshi Ichida, et al.
European Journal of Human Genetics : EJHG|February 7, 2013
Family-based association tests for sequence data, and comparisons with population-based association testsIuliana Ionita-Laza, Seunggeun Lee, Vladimir Makarov, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degenerationHuei-Hsin Chiang, Charlotte Forsell, Lena Lilius, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypesFiona K Baine, Chris Kay, Maria E Ketelaar, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
A global map for dissecting phenotypic variants in human lincRNAsShangwei Ning, Peng Wang, Jingrun Ye, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumourMagdalena Gogiel, Matthias Begemann, Sabrina Spengler, et al.
European Journal of Human Genetics : EJHG|February 10, 2012
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndromeMichael Klüppel, Payman Samavarchi-Tehrani, Kela Liu, et al.
European Journal of Human Genetics : EJHG|May 16, 2013
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disabilityFrederic Tran Mau-Them, Marjolaine Willems, Beate Albrecht, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
Complete mtDNA genomes of Filipino ethnolinguistic groups: a melting pot of recent and ancient lineages in the Asia-Pacific regionFrederick Delfin, Albert Min-Shan Ko, Mingkun Li, et al.
European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.
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