The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2 von Shakir, Aamina, Wadley, Alexandrea F., Purcarin, Gabriela, Wierenga, Klaas J.

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The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM 2 von Shakir, Aamina, Wadley, Alexandrea F., Purcarin, Gabriela, Wierenga, Klaas J.

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy von Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy von Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

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The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2 von Shakir, Aamina, Wadley, Alexandrea F, Purcarin, Gabriela, Wierenga, Klaas J

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The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype von Yigit, Gökhan, Saida, Ken, DeMarzo, Danielle, Miyake, Noriko, Fujita, Atsushi, Yang Tan, Tiong, White, Susan M., Wadley, Alexandrea, Toliat, Mohammad R., Motameny, Susanne, Franitza, Marek, Stutterd, Chloe A., Chong, Pin F., Kira, Ryutaro, Sengoku, Toru, Ogata, Kazuhiro, Guillen Sacoto, Maria J., Fresen, Christine, Beck, Bodo B., Nürnberg, Peter, Dieterich, Christoph, Wollnik, Bernd, Matsumoto, Naomichi, Altmüller, Janine

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