Imaging of parotid anomalies in infants and children

por Chalard, François, Hermann, Anne-Laure, Elmaleh-Bergès, Monique, Ducou le Pointe, Hubert
Publicado 2022

Correction: Imaging of parotid anomalies in infants and children

por Chalard, François, Hermann, Anne-Laure, Elmaleh-Bergès, Monique, le Pointe, Hubert Ducou
Publicado 2022

Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders

por Fraize, Justine, Leprince, Yann, Elmaleh-Bergès, Monique, Kerdreux, Eliot, Delorme, Richard, Hertz-Pannier, Lucie, Lefèvre, Julien, Germanaud, David
Publicado 2023

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

por Dorboz, Imen, Coutelier, Marie, Bertrand, Anne T, Caberg, Jean-Hubert, Elmaleh-Bergès, Monique, Lainé, Jeanne, Stevanin, Giovanni, Bonne, Gisèle, Boespflug-Tanguy, Odile, Servais, Laurent
Publicado 2014

Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation

por Fraize, Justine, Convert, Gabrielle, Leprince, Yann, Sylvestre-Marconville, Florent, Kerdreux, Eliot, Auzias, Guillaume, Lefèvre, Julien, Delorme, Richard, Elmaleh-Bergès, Monique, Hertz-Pannier, Lucie, Germanaud, David
Publicado 2023

Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing

por Fraize, Justine, Fischer, Clara, Elmaleh‐Bergès, Monique, Kerdreux, Eliot, Beggiato, Anita, Ntorkou, Alexandra, Duchesnay, Edouard, Bekha, Dhaif, Boespflug‐Tanguy, Odile, Delorme, Richard, Hertz‐Pannier, Lucie, Germanaud, David
Publicado 2023

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

por Dorboz, Imen, Dumay-Odelot, Hélene, Boussaid, Karima, Bouyacoub, Yosra, Barreau, Pauline, Samaan, Simon, Jmel, Haifa, Eymard-Pierre, Eleonore, Cances, Claude, Bar, Céline, Poulat, Anne-Lise, Rousselle, Christophe, Renaldo, Florence, Elmaleh- Bergès, Monique, Teichmann, Martin, Boespflug-Tanguy, Odile
Publicado 2018

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

por Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Publicado 2016