A Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome

Por Bersell, Kevin, Montgomery, Jay A., Kanagasundram, Arvindh N., Campbell, Courtney, Chung, Wendy K., Macaya, Daniela, Konecki, David, Venter, Eli, Shoemaker, M. Benjamin, Roden, Dan M.
Publicado no Circ Arrhythm Electrophysiol (2016)

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Por Reichold, Markus, Klootwijk, Enriko D., Reinders, Joerg, Otto, Edgar A., Milani, Mario, Broeker, Carsten, Laing, Chris, Wiesner, Julia, Devi, Sulochana, Zhou, Weibin, Schmitt, Roland, Tegtmeier, Ines, Sterner, Christina, Doellerer, Hannes, Renner, Kathrin, Oefner, Peter J., Dettmer, Katja, Simbuerger, Johann M., Witzgall, Ralph, Stanescu, Horia C., Dumitriu, Simona, Iancu, Daniela, Patel, Vaksha, Mozere, Monika, Tekman, Mehmet, Jaureguiberry, Graciana, Issler, Naomi, Kesselheim, Anne, Walsh, Stephen B., Gale, Daniel P., Howie, Alexander J., Martins, Joana R., Hall, Andrew M., Kasgharian, Michael, O’Brien, Kevin, Ferreira, Carlos R., Atwal, Paldeep S., Jain, Mahim, Hammers, Alexander, Charles-Edwards, Geoffrey, Choe, Chi-Un, Isbrandt, Dirk, Cebrian-Serrano, Alberto, Davies, Ben, Sandford, Richard N., Pugh, Christopher, Konecki, David S., Povey, Sue, Bockenhauer, Detlef, Lichter-Konecki, Uta, Gahl, William A., Unwin, Robert J., Warth, Richard, Kleta, Robert
Publicado no J Am Soc Nephrol (2018)