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J. Brooks Crickard et al.
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Keith Nykamp et al.
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Baptiste Fouquet et al.
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Hermela Shimelis et al.
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Juan S. Martinez et al.
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Saleh AlAsiri et al.
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Michelle A. Wood-Trageser et al.
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Lucia Guidugli et al.
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Stefan Meyer et al.
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Anneke B. Oostra et al.
ANEMIA (2012)
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Tom Walsh et al.
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Adriana Rodriguez-Mari et al.
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Marc Tischkowitz et al.
CANCER RESEARCH (2010)
Impaired FANCD2 monoubiquitination and hypersensitivity to camptothecin uniquely characterize Fanconi anemia complementation group M
Thiyam Ramsing Singh et al.
BLOOD (2009)
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Arleen D. Auerbach
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)
MOLECULAR ORIGINS OF CANCER DNA Damage, Aging, and Cancer
Jan H. J. Hoeijmakers
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Drosophila brca2 is required for mitotic and meiotic DNA repair and efficient activation of the meiotic recombination checkpoint
Martha Klovstad et al.
PLOS GENETICS (2008)
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Blanche P. Alter et al.
JOURNAL OF MEDICAL GENETICS (2007)
Growth references for Turkish children aged 6 to 18 years
Olcay Neyzi et al.
ACTA PAEDIATRICA (2006)
Bax and Bid, two proapoptotic Bcl-2 family members, inhibit homologous recombination, independently of apoptosis regulation
A. Dumay et al.
ONCOGENE (2006)
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SK Sharan et al.
DEVELOPMENT (2004)
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HJ Yang et al.
SCIENCE (2002)
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ME Moynahan et al.
MOLECULAR CELL (2001)
Characterization of mammalian RAD51 double strand break repair using non-lethal dominant-negative forms
S Lambert et al.
EMBO JOURNAL (2000)
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