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British Journal of Cancer|December 8, 2011
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasiaP J Byrd, V Srinivasan, J I Last, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 13, 2012
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasiaPaul F Worth, Venkataramanan Srinivasan, Anna Smith, et al.
Human Molecular Genetics|May 24, 2001
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decayS A Pitts, H S Kullar, T Stankovic, et al.
Plos Genetics|March 19, 2016
A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour DevelopmentPhilip J Byrd, Grant S Stewart, Anna Smith, et al.
British Journal of Cancer|July 28, 2011
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumoursA Reiman, V Srinivasan, G Barone, et al.
Neurology|July 26, 2006
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasiaJ A P Hiel, B G M van Engelen, C M R Weemaes, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
Neurology|June 19, 2009
Clinical spectrum of ataxia-telangiectasia in adulthoodM M M Verhagen, W F Abdo, M A A P Willemsen, et al.
Human Mutation|January 4, 2012
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.
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