نتائج البحث - Dmitrijs Rots

  • يعرض 1 - 4 نتائج من 4
تنقيح النتائج
  1. 1
    Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

    Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals حسب Lottie D. Morison, Milou G. P. Kennis, Dmitrijs Rots, Arianne Bouman, Joost Kummeling, Elizabeth E. Palmer, Adam P. Vogel, Frédérique Liégeois, Amanda Brignell, Siddharth Srivastava, Zoë Frazier, Di Milnes, Himanshu Goel, David J. Amor, Ingrid E. Scheffer, Tjitske Kleefstra, Angela Morgan

    منشور في 2024
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

    DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review حسب Milou G. P. Kennis, Dmitrijs Rots, Arjan Bouman, Charlotte W. Ockeloen, Caroline Boelen, Carlo Marcelis, Bert B.A. de Vries, Mariet W. Elting, Quinten Waisfisz, Mohnish Suri, Esperanza Font–Montgomery, Dawn Peck, Deirdre E. Donnelly, R. Curtis Rogers, Ruth Richardson, Roseline Caumes, Boris Chaumette, Cécile Louveau, Suzanne C.E.H. Sallevelt, Saskia M. Maas, Jeroen J. Smits, Mieke M. van Haelst, Rebecca J. Levy, Helen Stewart, Bart Loeys, Rolph Pfundt, Tjitske Kleefstra, Lot Snijders Blok

    منشور في 2025
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

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

    منشور في 2021
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder حسب Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    منشور في 2023
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: