Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia von Weckhuysen, Sarah, Marsan, Elise, Lambrecq, Virginie, Marchal, Cécile, Morin‐Brureau, Mélanie, An‐Gourfinkel, Isabelle, Baulac, Michel, Fohlen, Martine, Kallay Zetchi, Christine, Seeck, Margitta, Grange, Pierre, Dermaut, Bart, Meurs, Alfred, Thomas, Pierre, Chassoux, Francine, Leguern, Eric, Picard, Fabienne, Baulac, Stéphanie

Volltext

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A von García Segarra, Nuria, Gautschi, Ivan, Mittaz-Crettol, Laureane, Kallay Zetchi, Christine, Al-Qusairi, Lama, Van Bemmelen, Miguel Xavier, Maeder, Philippe, Bonafé, Luisa, Schild, Laurent, Roulet-Perez, Eliane

Volltext

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability von Sabeh, Pascale, Dumas, Samantha A, Maios, Claudia, Daghar, Hiba, Korzeniowski, Marek, Rousseau, Justine, Lines, Matthew, Guerin, Andrea, Millichap, John J, Landsverk, Megan, Grebe, Theresa, Lindstrom, Kristin, Strober, Jonathan, Ait Mouhoub, Tarik, Zweier, Christiane, Steinraths, Michelle, Hebebrand, Moritz, Callewaert, Bert, Abou Jamra, Rami, Kautza-Lucht, Monika, Wegler, Meret, Kruszka, Paul, Kumps, Candy, Banne, Ehud, Waberski, Marta Biderman, Dieux, Anne, Raible, Sarah, Krantz, Ian, Medne, Livija, Pechter, Kieran, Villard, Laurent, Guerrini, Renzo, Bianchini, Claudia, Barba, Carmen, Mei, Davide, Blanc, Xavier, Kallay, Christine, Ranza, Emmanuelle, Yang, Xiao-Ru, O'Heir, Emily, Donald, Kirsten A, Murugasen, Serini, Bruwer, Zandre, Calikoglu, Muge, Mathews, Jennifer M, Lesieur-Sebellin, Marion, Baujat, Geneviève, Derive, Nicolas, Pierson, Tyler Mark, Murrell, Jill R, Shillington, Amelle, Ormieres, Clothilde, Rondeau, Sophie, Reis, André, Fernandez-Jaen, Alberto, Au, Ping Yee Billie, Sweetser, David A, Briere, Lauren C, Couque, Nathalie, Perrin, Laurence, Schymick, Jennifer, Gueguen, Paul, Lefebvre, Mathilde, Van Andel, Michael, Juusola, Jane, Antonarakis, Stylianos E, Parker, J Alex, Burnett, Barrington G, Campeau, Philippe M

Volltext

Risk-adjusted rates for potentially avoidable reoperations were computed from routine hospital data von Halfon, Patricia, Eggli, Yves, Matter, Maurice, Kallay, Christine, van Melle, Guy, Burnand, Bernard

Volltext

Reversible acquired epileptic frontal syndrome and CSWS suppression in a child with congenital hemiparesis treated by hemispherotomy von Kallay, Christine, Mayor-Dubois, Claire, Maeder-Ingvar, Malin, Seeck, Margritta, Debatisse, Damien, Deonna, Thierry, Roulet-Perez, Eliane

Volltext

High-accuracy extrapolated ab initio thermochemistry. II. Minor improvements to the protocol and a vital simplification von Bomble, Yannick J, Vázquez, Juana, Kállay, Mihály, Michauk, Christine, Szalay, Péter G, Császár, Attila G, Gauss, Jürgen, Stanton, John F

Volltext

Occupational and Environmental Risk Factors for Idiopathic Pulmonary Fibrosis: A Multicenter Case-Control Study von Baumgartner, Kathy B., Samet, Jonathan M., Coultas, David B., Stidley, Christine A., Hunt, William C., Colby, Thomas V., Waldron, James A., Collaborating Centers

Volltext

Familial AML With Germline CEBPA Mutations: Extended Clinical Outcomes and Analysis Of Secondary Mutations Using Whole Exome Sequencing von Tawana, Kiran, Renneville, Aline, Wang, Jun, Georgiades, Panayiotis, Thomas, Xavier, Mialou, Valerie, Savic, Aleksander, Van Delft, Frederik W, Treleaven, Jennifer G., Iqbal, Sameena, Asou, Norio, Uike, Naokuni, Döhner, Konstanze, Bullinger, Lars, Stelljes, Matthias, Bödör, Csaba, Cavenagh, James D., Steinemann, Doris, Ripperger, Tim, Schlegelberger, Brigitte, Vandenberghe, Peter, Uyttebroeck, Anne, Nomdedeu, Josep F., Hjorth-Hansen, Henrik, Gale, Rosemary E, Toze, Cynthia L., Barnett, Michael J., Zombori, Marianna, Kallay, Krisztian, Pavlu, Jiri, Mutsaers, Pim, Menko, Fred H, Thomas, Angela, Wright, Christine, Okosun, Jessica, Loveday, Chey, Fenaux, Pierre, Scott, Hamish, Preudhomme, Claude, Chelala, Claude, Male, Alison, Owen, Carolyn J., Smith, Matthew, Fitzgibbon, Jude

Volltext

High-accuracy extrapolated ab initio thermochemistry. II.Minor improvements to the protocol and a vital simplification von Bomble, Yannick J., Vázquez, Juana, Kállay, Mihály, Michauk, Christine, Szalay, Péter G., Császár, Attila G., Gauss, Jürgen, Stanton, John F.

Volltext