Young children with Noonan syndrome: evaluation of feeding problems

por Draaisma, Jos M. T., Drossaers, Joris, van den Engel-Hoek, Lenie, Leenders, Erika, Geelen, Joyce
Publicado 2020

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy

por Kleimeier, Lotte E. R., van Schaik, Caroline, Leenders, Erika, Itkin, Maxim, Klein, Willemijn M., Draaisma, Jos M. T.
Publicado 2022

Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

por Tiemens, Dagmar K., Nugteren, Jacqueline, Leenders, Erika, Wingbermühle, Ellen, Pittens, Carina A. C. M., Draaisma, Jos M. Th.
Publicado 2021

Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study

por Swarts, Jessie W., Kleimeier, Lotte E. R., Leenders, Erika K. S. M, Rinne, Tuula, Klein, Willemijn M., Draaisma, Jos M. T.
Publicado 2022

Feeding Problems in Patients with Noonan Syndrome: A Narrative Review

por Tiemens, Dagmar K., van Haaften, Leenke, Leenders, Erika, van Wegberg, Annemiek M. J., Gunther Moor, Bregtje, Geelen, Joyce, Draaisma, Jos M. T.
Publicado 2022

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants

por Wingbermühle, Ellen, Roelofs, Renée L., Oomens, Wouter, Kramer, Jennifer, Draaisma, Jos M. T., Leenders, Erika, Kleefstra, Tjitske, Kessels, Roy P. C., Egger, Jos I. M.
Publicado 2022

Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders

por Draaisma, Fieke, Erasmus, Corrie E., Braakman, Hilde M. H., Burgers, Melanie C. J., Leenders, Erika K. S. M., Rinne, Tuula, van Alfen, Nens, Draaisma, Jos M. T.
Publicado 2023

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder

por Tiemens, Dagmar K., Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L., Sibbles, Barbara, Oostwegel, Floor S.M., Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A. A. P., Draaisma, Jos M. T., Pittens, Carina A.C.M.
Publicado 2023

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

por Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke HM, Koenen, Hans JPM, Zonneveld-Huijssoon, Evelien, Henriet, Stefanie SV, Schatorjé, Ellen JH, Hoppenreijs, Esther PAH, Leenders, Erika KSM, Janssen, Etienne JM, Santen, Gijs WE, de Munnik, Sonja A, van Reijmersdal, Simon V, van Rijssen, Esther, Kersten, Simone, Netea, Mihai G, Smeets, Ruben L, van de Veerdonk, Frank L, Hoischen, Alexander, van der Made, Caspar I
Publicado 2022

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

por Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E., Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth, Kleefstra, Tjitske
Publicado 2021

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

por Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander J.M., Goodman, Sarah J., Siu, Michelle T., Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert B.A., Deden, A. Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance T.R.M., Stevens, Servi J.C., Vermeulen, Jeroen R., van Harssel, Jeske V.T., Bosch, Danielle G.M., van Gassen, Koen L.I., van Binsbergen, Ellen, de Geus, Christa M., Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M., Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B., Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W., Berry, Ian R., Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M., Radley, Jessica A., Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G., Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata J.M., Cohn, Ronald D., Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W., Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Koolen, David A., Weksberg, Rosanna
Publicado 2021