Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity

por 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.
Publicado 2021

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

por Johannesen, Katrine M., Nielsen, Jimmi, Sabers, Anne, Isidor, Bertrand, Kattentidt-Mouravieva, Anja A., Zieglgänsberger, Dominik, Heidlebaugh, Alexis R., Oetjens, Kathryn F., Vidal, Anna Abuli, Christensen, Jakob, Tiller, Jacob, Freed, Amber N., Møller, Rikke S., Rubboli, Guido
Publicado 2023

Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome

por 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.
Publicado 2021

Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment

por Pellikaan, Karlijn, Rosenberg, Anna G W, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, Veen-Roelofs, José 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
Publicado 2020

What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five-Year Experience of Internal...

por Rosenberg, Anna G W, Pater, Minke R A, Davidse, Kirsten, Kattentidt-Mouravieva, Anja A, Kersseboom, Rogier, Bos-Roubos, Anja G, van Eeghen, Agnies, van der Meulen, Jiske J, Veen, José M C, van Aalst, Nina, Hoekstra, Franciska M E, Van der Lely, Aart J, de Graaff, Laura C G
Publicado 2021

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

por Kassabian, Benedetta, Fenger, Christina Dühring, Willems, Marjolaine, Aledo-Serrano, Angel, Linnankivi, Tarja, McDonnell, Pamela Pojomovsky, Lusk, Laina, Jepsen, Birgit Susanne, Bayat, Michael, Kattentidt-Mouravieva, Anja A., Vidal, Anna Abulí, Valero-Lopez, Gabriel, Alarcon-Martinez, Helena, Goodspeed, Kimberly, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Møller, Rikke S., Johannesen, Katrine M., Rubboli, Guido
Publicado 2023

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘I...

por 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, José 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.
Publicado 2021