Výsledky vyhledávání - Lisette Leeuwen
- Zobrazuji výsledky 1 - 4 z 4
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1
Congenital Diaphragmatic Hernia and Growth to 12 Years Autor Lisette Leeuwen, Daphne S. Mous, Joost van Rosmalen, Joanne F. Olieman, Laura Andriessen, Saskia J. Gischler, Koen Joosten, René Wijnen, Dick Tibboel, Hanneke IJsselstijn, Marjolein Spoel
Vydáno 2017Artigo -
2
The severity of SLC1A2-associated neurodevelopmental disorders correlates with transporter dysfunction Autor Peter Kovermann, Allan Bayat, Christina Fenger, Lisette Leeuwen, Artem Borovikov, Artem Sharkov, Virginie Levrat, Gaëtan Lesca, Laurence Perrin, Jonathan Lévy, Christoph Fahlke, Rikke S. Møller, Anders A. Jensen
Vydáno 2025Artigo -
3
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies Autor Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche
Vydáno 2021Artigo -
4
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder Autor 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
Vydáno 2023Artigo
Vyhledávací nástroje:
Související témata
Medicine
Biology
Genetics
Bioinformatics
Gene
Internal medicine
Autism
Autism spectrum disorder
Channelopathy
Confidence interval
Congenital diaphragmatic hernia
Extracorporeal membrane oxygenation
Fetus
Gain of function
Loss function
Missense mutation
Neurodevelopmental disorder
Neuroscience
Pediatrics
Phenotype
Physics
Pregnancy
Psychiatry
Psychology
Quantum mechanics
Spectrum (functional analysis)
Surgery
Transporter