The Multidisciplinary Guidelines for Diagnosis and Referral in Cerebral Visual Impairment

por Boonstra, Frouke N., Bosch, Daniëlle G. M., Geldof, Christiaan J. A., Stellingwerf, Catharina, Porro, Giorgio
Publicado 2022

Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain

por van de Lagemaat, Louie N., Nijhof, Bonnie, Bosch, Daniëlle G. M., Kohansal-Nodehi, Mahdokht, Keerthikumar, Shivakumar, Heimel, J. Alexander
Publicado 2014

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

por Tracewska-Siemiątkowska, Anna, Haer-Wigman, Lonneke, Bosch, Danielle G. M., Nickerson, Deborah, Bamshad, Michael J., van de Vorst, Maartje, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Cremers, Frans P. M., Tranebjærg, Lisbeth
Publicado 2017

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