Search Results - "Astrinidis, Susanne A"

Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund-Thomson syndrome by Yokoyama, Hideki, Moreno-Andres, Daniel, Astrinidis, Susanne A, Hao, Yuqing, Weberruss, Marion, Schellhaus, Anna K, Lue, Hongqi, Haramoto, Yoshikazu, Gruss, Oliver J, Antonin, Wolfram

“…RecQ-like helicase 4 (RECQL4) is mutated in patients suffering from the Rothmund-Thomson syndrome, a genetic disease characterized by premature aging, skeletal…”
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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome by Braun, Daniela A, Sadowski, Carolin E, Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A, Pabst, Werner L, Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A, Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J, Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P, Antonin, Wolfram, Hildebrandt, Friedhelm

“…Friedhelm Hildebrandt and colleagues identify mutations in NUP93 , NUP205 or XPO5 in patients with steroid-resistant nephrotic syndrome. They show that NUP93…”
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