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Showing 13 - 18 of 18 results
Publication

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Susan Byrne, Ada Hamosh, Adnan Y. Manzur, Anja Stein, Annick Raas-Rothschild, Arveen Kamath, Ata Siddiqui, Carlo Dionisi-Vici, Caroline Sewry, Catriona A. McLean, Charles Marques Lourenco, Daniela T. Pilz, Darius Ebrahimi-Fakhari, David Manchester, Donnell Creel, Edith Said, Efrat Dagan, Erik Zmuda, Francis Filloux, Frits A. Wijburg, Georg F. Hoffmann, Hanna Mandel, Hart G. W. Lidov, Heinz Jungbluth, Hila Barash, Istvan Bodi, Jean-Marie U-King-Im, Kandamurugu Manickam, Kevin M. Flanigan, Khalid Al Thihli, Lara Jansen, Laura Travan, Lihadh Al-Gazali, Luke Smith, Manolis Fanto, Martin Zenker, Mathias Gautel, Michael Harris, Mohammed Al-Owain, Monique M. Ryan, Natasha J. Brown, Philip J. Boyer, Prab Prabhakar, R. Curtis Rogers, Rachael Mein, Rana El-Garhy, Ruth Gershoni-Baruch, Shehla Mohammed, Stefan Kölker, Thomas Cullup, Ulrike Schara, Vamshi K. Rao, Wesley Banks, Zandre Bruwer

Publication

Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late.

Suzan M. Hammond, Ariane Beauvais, Christine J. DiDonato, Rashmi Kothary, Rocky G. Gogliotti, Vamshi Rao

Publication

Comparative Proteomes of the Proliferating C2C12 Myoblasts and Fully Differentiated Myotubes Reveal the Complexity of the Skeletal Muscle Differentiation Program

Nilesh S. Tannu, Abdelwahab E. Saeed, Francesco Giorgianni, Rajendra Raghow, Ritcha M. Chaudhary, Vamshi K. Rao, Yong Gao

Publication

Paraffin-wax-coated plates as matrix-assisted laser desorption/ionization sample support for high-throughput identification of proteins by peptide mass fingerprinting.

Nilesh S Tannu, Himanshu S Gadgil, Ivan C Gerling, Jian Wu, Michael J Pabst, Rajendra Raghow, Vamshi K Rao