المؤلفون: Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina

المصدر: Gokce-Samar, Zeynep; Vetro, Annalisa; De Bellescize, Julitta; Pisano, Tiziana; Monteiro, Laloe; Penaud, Noémie; Korff, Christian M; Fluss, Joel; Marini, Carla; Cesaroni, Elisabetta; Alvarez, Blanca Mercedes; Sanlaville, Damien; Chatron, Nicolas; Arzimanoglou, Alexis A; Labalme, Audrey; Cuddapah, Vishnu A; Ruggiero, Sarah M; Lecoquierre, Francois; Nicolas, Gael; Marie, Guerrot Anne; Lebas, Axel; Testard, Herve O; Helbig, Katherine L; Ruiz, Anna; Ngoh, Adeline; Kurian, Manju A; Joset, Pascal; Ramantani, Georgia; Steindl, Katharina; et al (2024). Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology, 102(2):e207945.

مصطلحات موضوعية: Institute of Medical Genetics, Medical Clinic, 570 Life sciences, biology, 610 Medicine & health, Neurology (clinical), Genetics, Genetics (clinical), Absence seizures, Clinical Neurophysiology, Developmental disorders, EEG, Epilepsy, Seizures, Pediatric

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/253349/1/WNL.0000000000207945.pdfTest; info:pmid/38165337; urn:issn:0028-3878

الإتاحة: https://doi.org/10.5167/uzh-253349Test
https://doi.org/10.1212/wnl.0000000000207945Test
https://www.zora.uzh.ch/id/eprint/253349Test/
https://www.zora.uzh.ch/id/eprint/253349/1/WNL.0000000000207945.pdfTest

المؤلفون: Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M, Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A, Labalme, Audrey, Cuddapah, Vishnu A, Ruggiero, Sarah M, Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O, Helbig, Katherine L, Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A, Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S, Rosenfeld, Jill A, Au, Margaret, Grand, Katheryn, Graham, John, Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E, Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan

المصدر: Neurology , 102 (2) , Article e207945. (2024)

مصطلحات موضوعية: Humans, Male, Animals, Mice, Child, Preschool, Adolescent, Young Adult, Adult, Infant, Seizures, Phenotype, Epilepsy, Absence, Generalized, Genotype, Intellectual Disability, Nuclear Receptor Subfamily 1, Group F, Member 2

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186654Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186654Test/

المؤلفون: Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja

المصدر: Neurology ; volume 102, issue 2 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.0000000000207945Test