Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity. by Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto

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The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders by Katrine M. Johannesen, Katrine M. Johannesen, Jimmi Nielsen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgänsberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jakob Christensen, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Møller, Rikke S. Møller, Guido Rubboli, Guido Rubboli

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Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders by Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders by Benedetta Kassabian, Benedetta Kassabian, Christina Dühring Fenger, Christina Dühring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja A. Kattentidt-Mouravieva, Anna Abulí Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Tahsin Stefan Barakat, Rikke S. Møller, Rikke S. Møller, Katrine M. Johannesen, Katrine M. Johannesen, Guido Rubboli, Guido Rubboli

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ARID1B-related disorder in 87 adults: Natural history and self-sustainability by P.J. van der Sluijs, M. Gösgens, A.J.M. Dingemans, P. Striano, A. Riva, C. Mignot, A. Faudet, G. Vasileiou, M. Walther, S.A. Schrier Vergano, M. Alders, F.S. Alkuraya, I. Alorainy, H.S. Alsaif, B. Anderlid, I. Bache, I. van Beek, M. Blanluet, B.W. van Bon, T. Brunet, H. Brunner, M.L. Carriero, P. Charles, N. Chatron, E. Coccia, C. Dubourg, R.K. Earl, E.E. Eichler, L. Faivre, N. Foulds, C. Graziano, A.M. Guerrot, M.O. Hashem, S. Heide, D. Heron, S.E. Hickey, S.M.J. Hopman, A. Kattentidt-Mouravieva, J. Kerkhof, J.S. Klein Wassink-Ruiter, E.C. Kurtz-Nelson, K. Kušíková, M. Kvarnung, F. Lecoquierre, G.S. Leszinski, L. Loberti, P.L. Magoulas, F. Mari, I. Maystadt, G. Merla, J.M. Milunsky, S. Moortgat, G. Nicolas, M.O.’ Leary, S. Odent, J.R. Ozmore, K. Parbhoo, R. Pfundt, M. Piccione, A.M. Pinto, B. Popp, A. Putoux, H.L. Rehm, A. Reis, A. Renieri, J.A. Rosenfeld, M. Rossi, E. Salzano, P. Saugier-Veber, M. Seri, G. Severi, F.M. Sonmez, G. Strobl-Wildemann, K.E. Stuurman, E. Uctepe, H. Van Esch, G. Vitetta, B.B.A. de Vries, D. Wahl, T. Wang, P. Zacher, K.R. Heitink, F.G. Ropers, D. Steenbeek, T. Rybak, G.W.E. Santen

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