Editor's choice

Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone, Shamima Rahman

Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
Neurofibromatosis type 1: from genotype to phenotype
Eric Pasmant, Michel Vidaud, Dominique Vidaud, Pierre Wolkenstein

Journal of Medical Genetics Aug 2012, 49 (8) 483-489; DOI: 10.1136/jmedgenet-2012-100978
Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma
Nelly Sabbaghian, Nancy Hamel, Archana Srivastava, Steffen Albrecht, John R Priest, William D Foulkes

Journal of Medical Genetics Jul 2012, 49 (7) 417-419; DOI: 10.1136/jmedgenet-2012-100898
Clinical application of exome sequencing in undiagnosed genetic conditions
Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein

Journal of Medical Genetics Jun 2012, 49 (6) 353-361; DOI: 10.1136/jmedgenet-2012-100819
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease
James O'Sullivan, Brendan G Mullaney, Sanjeev S Bhaskar, Jonathan E Dickerson, Georgina Hall, Anna O'Grady, Andrew Webster, Simon C Ramsden, Graeme C Black

Journal of Medical Genetics May 2012, 49 (5) 322-326; DOI: 10.1136/jmedgenet-2012-100847
An SNX10 mutation causes malignant osteopetrosis of infancy
Memet Aker, Alex Rouvinski, Saar Hashavia, Asaf Ta-Shma, Avraham Shaag, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Albert Taraboulos, Zvi Bar-Shavit, Orly Elpeleg

Journal of Medical Genetics Apr 2012, 49 (4) 221-226; DOI: 10.1136/jmedgenet-2011-100520
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
Hanan E Shamseldin, Mohamed Elfaki, Fowzan S Alkuraya

Journal of Medical Genetics Mar 2012, 49 (3) 184-186; DOI: 10.1136/jmedgenet-2011-100585
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
Qing Liu, Zhan Qi, Xin-Hua Wan, Jing-Yun Li, Lei Shi, Qiang Lu, Xiang-Qin Zhou, Lei Qiao, Li-Wen Wu, Xiu-Qin Liu, Wei Yang, Ying Liu, Li-Ying Cui, Xue Zhang

Journal of Medical Genetics Feb 2012, 49 (2) 79-82; DOI: 10.1136/jmedgenet-2011-100653
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
B J C van den Bosch, M Gerards, W Sluiter, A P A Stegmann, E L C Jongen, D M E I Hellebrekers, R Oegema, E H Lambrichs, H Prokisch, K Danhauser, K Schoonderwoerd, I F M de Coo, H J M Smeets

Journal of Medical Genetics Jan 2012, 49 (1) 10-15; DOI: 10.1136/jmedgenet-2011-100466
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Mohamed H Abdel-Rahman, Robert Pilarski, Colleen M Cebulla, James B Massengill, Benjamin N Christopher, Getachew Boru, Peter Hovland, Frederick H Davidorf

Journal of Medical Genetics Dec 2011, 48 (12) 856-859; DOI: 10.1136/jmedgenet-2011-100156

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