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Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Academic Journal

Kozyra, EJ; Gohring, G; Hickstein, DD; Calvo, KR; DiNardo, CD; Dworzak, M; de Haas, V; Stary, J; Hasle, H; Shimamura, A; Fleming, MD; Inaba, H; Lewis, S; Hsu, AP; Holland, SM; Arnold, DE; Mecucci, C; Keel, SB; Bertuch, AA; Tawana, K; Barzilai, S; Hirabayashi, S; Onozawa, M; Lei, SH; Alaiz, H; Andrikovics, H; Betts, D; Beverloo, BH; Buechner, J; Cermak, M; Cervera, J; Haus, O; Jahnukainen, K; Manola, KN; Nebral, K; Pasquali, F; Tchinda, J; Turkiewicz, D; Van Roy, N; Zemanova, Z; Pastor, VB; Strahm, B; Noellke, P; Niemeyer, CM; Schlegelberger, B; Yoshimi, A; Wlodarski, MW

Blood. 138(23):2441-2445

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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Academic Journal

Sasa, GS; Ribes-Zamora, A; Nelson, ND; Bertuch, AA

Clinical Genetics. May2012, Vol. 81 Issue 5, p470-478. 9p. 1 Black and White Photograph, 1 Chart, 2 Graphs.

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Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

Academic Journal

Hermanns, P; Bertuch, AA; Bertin, TK; Dawson, B; Schmitt, ME; Shaw, C; Zabel, B; Lee, B

HUMAN MOLECULAR GENETICS; DEC 1 2005, 14 23, p3723-p3740, 18p.

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EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae

Academic Journal

Bertuch, AA; Lundblad, V

GENETICS; APR 2004, 166 4, p1651-p1659, 9p.

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The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini

Academic Journal

Bertuch, AA; Lundblad, V

MOLECULAR AND CELLULAR BIOLOGY; NOV 2003, 23 22, p8202-p8215, 14p.

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Which end: dissecting Ku's function at telomeres and double-strand breaks

Academic Journal

Bertuch, AA; Lundblad, V

GENES & DEVELOPMENT; OCT 1 2003, 17 19, p2347-p2350, 4p.

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Telomeres: The molecular events driving end-to-end fusions

Academic Journal

Bertuch, AA

CURRENT BIOLOGY; OCT 29 2002, 12 21, pR738-pR740, 3p.

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Telomeres and telomerase: at the end, it all comes together

Academic Journal

Evans, SK; Bertuch, AA; Lundblad, V

TRENDS IN CELL BIOLOGY; AUG 1999, 9 8, p329-p331, 3p.

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Papillary thyroid cancer: A pediatric perspective

Academic Journal

Flannery, TK; Kirkland, JL; Copeland, KC; Bertuch, AA; Karaviti, LP; Brandt, ML

PEDIATRICS; SEP 1996, 98 3, p464-p466, 3p.

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