Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea by Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

Get full text

Cardiac rhabdomyomas – The importance of prenatal diagnosis for tuberous sclerosis by Mitel, Alina, Burloiu, Carmen

Get full text

P137 Case presentation: diagnostic difficulties in acute lymphoblastic leukaemia by Mitel, Alina, Burloiu, Carmen, Capisizu, Alexandru, Luminos, Monica

Get full text

P137Case presentation: diagnostic difficulties in acute lymphoblastic leukaemia by Mitel, Alina, Burloiu, Carmen, Capisizu, Alexandru, Luminos, Monica

Get full text

Familial SCN2A related epilepsy – Case report by Sandu, Carmen, Butoianu, Niculina, Burloiu, Carmen, Craiu, Dana, Iliescu, Catrinel

Get full text

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort by Riza, Anca-Lelia, Streață, Ioana, Roza, Eugenia, Budișteanu, Magdalena, Iliescu, Catrinel, Burloiu, Carmen, Dobrescu, Mihaela-Amelia, Dorobanțu, Stefania, Dragoș, Adina, Grigorescu, Andra, Tătaru, Tiberiu, Ioana, Mihai, Teleanu, Raluca

Get full text

Imaging clues in the congenital cytomegalovirus infection by Marinescu, Andrei-Dan, Dica, Alice, Tarta-Arsene, Oana, Burloiu, Carmen, Bacos, Iuliu, Barca, Diana

Get full text

Cerebral venous thrombosis in pediatric patients – Clinical and imaging aspects by Dana, Surlica, Sandu, Carmen, Mavrodin, Diana, Butoianu, Niculina, Iliescu, Catrinel, Barca, Diana, Budisteanu, Magdalena, Burloiu, Carmen, Craiu, Dana

Get full text

A case of Bardet‑Biedl syndrome caused by a recurrent variant in BBS12 : A case report by Focsa, Ina Ofelia, Budisteanu, Magdalena, Burloiu, Carmen, Khan, Sheraz, Sadeghpour, Azita, Bohiltea, Laurentiu C, Davis, Erica E, Balgradean, Mihaela

Get full text

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries by Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agnes, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra

Get full text

Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome by SANDU, Carmen, BURLOIU, Carmen Magdalena, BARCA, Diana Gabriela, MAGUREANU, Sanda Adriana, CRAIU, Dana Cristina

Get full text