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LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics Muffels, Irena J. J.; Carter, Theodore; Rehmann, Holger; Vastert, Sebastiaan J.; Stuart, Annemarie A. Verrijn; Blank, Andreas C.; Garde, Aurore; van der Zwaag, Bert; De Lange, Iris M.; Giltay, Jacques C.; van Gassen, Koen L. I.; Koop, Klaas; Asensio, Cedric S.; van Hasselt, Peter M. Share Save
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib Boulouadnine, Boutaina; Filser, Mathilde; Leducq, Camille; Losole, Taylor; Bies, Joshua; Smetsers, Stephanie; Kouwenberg, Dorus; de Lange, Iris; Mensenkamp, Arjen; Kordes, Uwe Richard; Minard-colin, Veronique; Orbach, Daniel; Brichard, Benedicte; de Krijger, Ronald; Masliah-Planchon, Julien; Demoulin, Jean-Baptiste Share Save
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies Gallagher, Declan; Perez-Palma, Eduardo; Bruenger, Tobias; Ghanty, Ismael; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Zuberi, Sameer M.; Lal, Dennis; Brunklaus, Andreas Share Save
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Sex-specific cardiovascular protein levels and their link with clinical outcome in heart failure de Bakker, Marie; Loncq de Jong, Mylene; Petersen, Teun; de Lange, Iris; Akkerhuis, K. Martijn; Umans, Victor A.; Rizopoulos, Dimitris; Boersma, Eric; Brugts, Jasper J.; Kardys, Isabella Share Save
ARF1-related disorder: phenotypic and molecular spectrum Agathe, Jean-Madeleine de Sainte; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Celine; Alkuraya, Fowzan S.; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L.; Bryant, Emily M.; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M.; Friedman, Jennifer R.; Iascone, Maria; Cereda, Anna; Miao, Terence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N.; Owens, Joshua W.; Husami, Ammar; Chaudhari, Bimal P.; Stone, Brandon S.; Burns, Katie; Li, Rachel; de Lange, Iris M.; Biehler, Margaux; Ginglinger, Emmanuelle; Gerard, Benedicte; Stottmann, Rolf W.; Trimouille, Aurelien Share Save
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Heart failure subphenotypes based on repeated biomarker measurements are associated with clinical characteristics and adverse events (Bio-SHiFT study) de Lange, Iris; Petersen, Teun B.; de Bakker, Marie; Akkerhuis, K. Martijn; Brugts, Jasper J.; Caliskan, Kadir; Manintveld, Olivier C.; Constantinescu, Alina A.; Germans, Tjeerd; van Ramshorst, Jan; Umans, Victor A. W. M.; Boersma, Eric; Rizopoulos, Dimitris; Kardys, Isabella Share Save
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Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies Brunklaus, Andreas; Perez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, Rikke S.; Nabbout, Rima; Regan, Brigid M.; Schneider, Amy L.; Scheffer, Ingrid E.; Schoonjans, An-Sofie; Symonds, Joseph D.; Weckhuysen, Sarah; Kattan, Michael W.; Zuberi, Sameer M.; Lal, Dennis Share Save
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N.; Ritter, Alyssa L.; Leonard, Jacqueline M. M.; Savatt, Juliann M.; Douglass, Kristen; Myers, Scott M.; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C. E.; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J.; de Lange, Iris M.; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frederic; Baker, Janice; Fabie, Noelle; Weaver, K.; Shillington, Amelle; Hopkin, Robert J.; Barge-Schaapveld, Daniela Q. C. M.; Al Ruivenkamp, Claudia; Bokenkamp, Regina; Vergano, Samantha; Moro, Maria Noelia Seco; de Bustamante, Aranzazu Diaz; Misra, Vinod K.; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M.; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C.; Lefebvre, Veronique Share Save
Functional Characterization and Structural Insights Into Stereoselectivity of Pulegone Reductase in Menthol Biosynthesis (vol 12, 780970, 2021) Liu, Chanchan; Gao, Qiyu; Shang, Zhuo; Liu, Jian; Zhou, Siwei; Dang, Jingjie; Liu, Licheng; Lange, Iris; Srividya, Narayanan; Lange, B. Markus; Wu, Qinan; Lin, Wei Share Save
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Functional Characterization and Structural Insights Into Stereoselectivity of Pulegone Reductase in Menthol Biosynthesis Liu, Chanchan; Gao, Qiyu; Shang, Zhuo; Liu, Jian; Zhou, Siwei; Dang, Jingjie; Liu, Licheng; Lange, Iris; Srividya, Narayanan; Lange, B. Markus; Wu, Qinan; Lin, Wei Share Save
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Muir, Alison M.; Gardner, Jennifer F.; van Jaarsveld, Richard H.; de Lange, Iris M.; van der Smagt, Jasper J.; Wilson, Golder N.; Dubbs, Holly; Goldberg, Ethan M.; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C.; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C.; Brady, Angela F.; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A.; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E.; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J.; Wentzensen, Ingrid M.; Schnur, Rhonda E.; Monaghan, Kristin G.; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B.; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klockner, Chiara; Hoffman, Trevor L.; MacArthur, Daniel G.; O'Leary, Melanie C.; VanNoy, Grace E.; England, Eleina; Varghese, Vinod C.; Mefford, Heather C. Share Save
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save
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