Not logged in The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders Johannesen, Katrine M.; Nielsen, Jimmi; Sabers, Anne; Isidor, Bertrand; Kattentidt-Mouravieva, Anja A.; Zieglgaensberger, Dominik; Heidlebaugh, Alexis R.; Oetjens, Kathryn F.; Vidal, Anna Abuli; Christensen, Jakob; Tiller, Jacob; Freed, Amber N.; Moller, Rikke S.; Rubboli, Guido Share Save
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders (vol 17, 1219262, 2023) Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; Mcdonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt-Mouravieva, Anja A.; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders Kassabian, Benedetta; Fenger, Christina Duhring; Willems, Marjolaine; Aledo-Serrano, Angel; Linnankivi, Tarja; McDonnell, Pamela Pojomovsky; Lusk, Laina; Jepsen, Birgit Susanne; Bayat, Michael; Kattentidt, Anja; Vidal, Anna Abuli; Valero-Lopez, Gabriel; Alarcon-Martinez, Helena; Goodspeed, Kimberly; van Slegtenhorst, Marjon; Barakat, Tahsin Stefan; Moller, Rikke S.; Johannesen, Katrine M.; Rubboli, Guido Share Save
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes' Rosenberg, Anna G. W.; Pater, Minke R. A.; Pellikaan, Karlijn; Davidse, Kirsten; Kattentidt-Mouravieva, Anja A.; Kersseboom, Rogier; Bos-Roubos, Anja G.; van Eeghen, Agnies; Veen, Jose M. C.; van der Meulen, Jiske J.; Van Aalst-van Wieringen, Nina; Hoekstra, Franciska M. E.; van der Lely, Aart J.; de Graaff, Laura C. G. Share Save
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome Pellikaan, Karlijn; Rosenberg, Anna G. W.; Davidse, Kirsten; Kattentidt-Mouravieva, Anja A.; Kersseboom, Rogier; Bos-Roubos, Anja G.; Grootjen, Lionne N.; Damen, Layla; van den Berg, Sjoerd A. A.; van der Lely, Aart J.; Hokken-Koelega, Anita C. S.; de Graaff, Laura C. G. Share Save
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity Besterman, Aaron D.; Althoff, Thorsten; Elfferich, Peter; Gutierrez-Mejia, Irma; Sadik, Joshua; Bernstein, Jonathan A.; van Ierland, Yvette; Kattentidt-Mouravieva, Anja A.; Nellist, Mark; Abramson, Jeff; Martinez-Agosto, Julian A. Share Save
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction den Hoed, Joery; de Boer, Elke; Voisin, Norine; Dingemans, Alexander J. M.; Guex, Nicolas; Wiel, Laurens; Nellaker, Christoffer; Amudhavalli, Shivarajan M.; Banka, Siddharth; Bena, Frederique S.; Ben-Zeev, Bruria; Bonagura, Vincent R.; Bruel, Ange-Line; Brunet, Theresa; Brunner, Han G.; Chew, Hui B.; Chrast, Jacqueline; Cimbalistiene, Loreta; Coon, Hilary; Delot, Emmanuelle C.; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Donnai, Dian; Dyment, David A.; Elpeleg, Orly; Faivre, Laurence; Gilissen, Christian; Granger, Leslie; Haber, Benjamin; Hachiya, Yasuo; Abedi, Yasmin Hamzavi; Hanebeck, Jennifer; Hehir-Kwa, Jayne Y.; Horist, Brooke; Itai, Toshiyuki; Jackson, Adam; Jewell, Rosalyn; Jones, Kelly L.; Joss, Shelagh; Kashii, Hirofumi; Kato, Mitsuhiro; Kattentidt-Mouravieva, Anja A.; Kok, Fernando; Kotzaeridou, Urania; Krishnamurthy, Vidya; Kucinskas, Vaidutis; Kuechler, Alma; Lavillaureix, Alinoe; Liu, Pengfei; Manwaring, Linda; Matsumoto, Naomichi; Mazel, Benoit; McWalter, Kirsty; Meiner, Vardiella; Mikati, Mohamad A.; Miyatake, Satoko; Mizuguchi, Takeshi; Moey, Lip H.; Mohammed, Shehla; Mor-Shaked, Hagar; Mountford, Hayley; Newbury-Ecob, Ruth; Odent, Sylvie; Orec, Laura; Osmond, Matthew; Palculict, Timothy B.; Parker, Michael; Petersen, Andrea K.; Pfundt, Rolph; Preiksaitiene, Egle; Radtke, Kelly; Ranza, Emmanuelle; Rosenfeld, Jill A.; Santiago-Sim, Teresa; Schwager, Caitlin; Sinnema, Margje; Blok, Lot Snijders; Spillmann, Rebecca C.; Stegmann, Alexander P. A.; Thiffault, Isabelle; Linh Tran; Vaknin-Dembinsky, Adi; Vedovato-dos-Santos, Juliana H.; Vergano, Samantha A. Schrier; Vilain, Eric; Vitobello, Antonio; Wagner, Matias; Waheeb, Androu; Willing, Marcia; Zuccarelli, Britton; Kini, Usha; Newbury, Dianne F.; Kleefstra, Tjitske; Reymond, Alexandre; Fisher, Simon E.; Vissers, Lisenka E. L. M. Share Save
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment Pellikaan, Karlijn; Rosenberg, Anna G. W.; Kattentidt-Mouravieva, Anja A.; Kersseboom, Rogier; Bos-Roubos, Anja G.; Veen-Roelofs, Jose M. C.; van Wieringen, Nina; Hoekstra, Franciska M. E.; van den Berg, Sjoerd A. A.; van der Lely, Aart Jan; de Graaff, Laura C. G. Share Save
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