Not logged inAtypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Shinawi, Marwan; Wegner, Daniel J.; Paul, Alexander J.; Buchser, William; Schmidt, Robert; Sharma, Jaiprakash; Sardiello, Marco; Sisco, Kathleen; Manwaring, Linda; Reynolds, Margaret; Fulton, Robert; Fronick, Catrina; Shaver, Andrew; Huang, Tina Y.; Carroll, Ashley; Roessler, Kyria; Halpern, Aaron L.; Dickson, Patricia I.; Wambach, Jennifer A. .png)
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SaveRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset NeurodegenerationPolovitskaya, Maya M.; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L.; Cole, F. Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J.; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J. Share Save 
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