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First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Nicolaas G.J. Jaspers, Anja Raams, Margherita Silengo, Nils Wijgers, Laura J. Niedernhofer, Andria R. Robinson, Giuseppina Giglia‐Mari, Deborah Hoogstraten, Wim J. Kleijer, Jan H.J. Hoeijmakers,

The American Journal of Human Genetics · 2007 · 212 citations · 53 references

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53

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

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Sequential Assembly of the Nucleotide Excision Repair Factors In Vivo

Marcel Volker, Martijn J. Moné, Parimal Karmakar et al. · Molecular Cell · 2001 · 775 citations · Full text

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A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis

Laura J. Niedernhofer, George A. Garinis, Anja Raams et al. · Nature · 2006 · 661 citations

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Xeroderma Pigmentosum Group F Caused by a Defect in a Structure-Specific DNA Repair Endonuclease

Anneke M. Sijbers, Wouter de Laat, Rafael R. Ariza et al. · Cell · 1996 · 544 citations · Full text

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Mechanism of open complex and dual incision formation by human nucleotide excision repair factors

Elizabeth L. Evans · The EMBO Journal · 1997 · 500 citations · Full text

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