1. A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome. Issue 7 (29th April 2013) Authors: Riuró, Helena; Beltran‐Alvarez, Pedro; Tarradas, Anna; Selga, Elisabet; Campuzano, Oscar; Vergés, Marcel; Pagans, Sara; Iglesias, Anna; Brugada, Josep; Brugada, Pedro; Vázquez, Francisco M.; Pérez, Guillermo J.; Scornik, Fabiana S.; Brugada, Ramon Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 961 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD‐10 and SNOMED‐CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing. Issue 7 (3rd June 2013) Authors: Sollie, Annet; Sijmons, Rolf H.; Lindhout, Dick; van der, Ans T.; Rubio Gozalbo, M. Estela; Smit, G. Peter A.; Verheijen, Frans; Waterham, Hans R.; van, Sonja; Wijburg, Frits A.; Wijburg, Rudolph; Visser, Gepke Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS. Issue 7 (28th May 2013) Authors: Blasco, Hélène; Bernard‐Marissal, Nathalie; Vourc'h, Patrick; Guettard, Yves Olivier; Sunyach, Claire; Augereau, Olivier; Khederchah, Joelle; Mouzat, Kevin; Antar, Catherine; Gordon, Paul H.; Veyrat‐Durebex, Charlotte; Besson, Gérard; Andersen, Peter M.; Salachas, François; Meininger, Vincent; Ca... Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Allele‐Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease. Issue 7 (8th May 2013) Authors: Matera, Ivana; Musso, Marco; Griseri, Paola; Rusmini, Marta; Di, Marco; So, Man‐ting; Mavilio, Domenico; Miao, Xiaoping; Tam, Paul HK; Ravazzolo, Roberto; Ceccherini, Isabella; Garcia‐Barcelo, Merce Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 1047 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Different Molecular Consequences of Frameshift Mutations in the ANTXR2 Gene. Issue 7 (18th June 2013) Authors: Rampoldi, Luca Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome Resequencing Identifies Potential Tumor‐Suppressor Genes that Predispose to Colorectal Cancer. Issue 7 (20th May 2013) Authors: Smith, Christopher G.; Naven, Marc; Harris, Rebecca; Colley, James; West, Hannah; Li, Ning; Liu, Yuan; Adams, Richard; Maughan, Timothy S.; Nichols, Laura; Kaplan, Richard; Wagner, Michael J.; McLeod, Howard L.; Cheadle, Jeremy P. Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 1026 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. How to Assess Causality of TMPRSS6 Mutations?. Issue 7 (17th April 2013) Authors: Silvestri, Laura; Rausa, Marco; Pagani, Alessia; Nai, Antonella; Camaschella, Clara Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 1043 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. In‐Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy. Issue 7 (19th April 2013) Authors: Yan, Shixu E.; Lemmin, Thomas; Salvi, Suzanne; Lausch, Ekkehart; Superti‐Furga, Andrea; Rokicki, Dariusz; Dal Peraro, Matteo; van der, F. Gisou Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 1005 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations in the C‐Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ–MuSK Interaction. Issue 7 (19th April 2013) Authors: Nakata, Tomohiko; Ito, Mikako; Azuma, Yoshiteru; Otsuka, Kenji; Noguchi, Yoichiro; Komaki, Hirofumi; Okumura, Akihisa; Shiraishi, Kazuhiro; Masuda, Akio; Natsume, Jun; Kojima, Seiji; Ohno, Kinji Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Online Biomedical Resources for Malaria‐Related Red Cell Disorders. Issue 7 (8th May 2013) Authors: Piel, Frédéric B.; Howes, Rosalind E.; Nyangiri, Oscar A.; Moyes, Catherine L.; Williams, Thomas N.; Weatherall, David J.; Hay, Simon I. Journal: Human mutation Issue: Volume 34:Issue 7(2013:Jul.) Page Start: 937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗