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Human Mutation|December 8, 2004
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophyY Sun, M Grimmler, V Schwarzer, et al.
Human Mutation|December 18, 2004
Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patientsJavier Alonso, Helena Frayle, Ibis Menéndez, et al.
Human Mutation|September 15, 2004
The role of tau (MAPT) in frontotemporal dementia and related tauopathiesR Rademakers, M Cruts, C van Broeckhoven
Human Mutation|September 15, 2004
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGEGiuseppina Lacerra, Mirella Fiorito, Gennaro Musollino, et al.
Human Mutation|September 15, 2004
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer familiesYoung-Kyoung Shin, Seung-Chul Heo, Joo-Ho Shin, et al.
Human Mutation|September 15, 2004
Ten novel MSH2 and MLH1 germline mutations in families with HNPCCStefan Krüger, Andrea Bier, Jens Plaschke, et al.
Human Mutation|September 15, 2004
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosisT Georgiou, A Drousiotou, Y Campos, et al.
Human Mutation|September 15, 2004
Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomasGlória Isidro, Francisco Laranjeira, Ana Pires, et al.
Human Mutation|November 4, 2004
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemiaAndrew Chatr-Aryamontri, Mara Angelini, Emanuela Garelli, et al.
Human Mutation|November 9, 2004
Mutations of the Nogo-66 receptor (RTN4R) gene in schizophreniaLorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, et al.
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