Re-emerging concepts of immune dysregulation in autism spectrum disorders

por Erbescu, Alina, Papuc, Sorina Mihaela, Budisteanu, Magdalena, Arghir, Aurora, Neagu, Monica
Publicado 2022

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

por Papuc, Sorina Mihaela, Erbescu, Alina, Glangher, Adelina, Streata, Ioana, Riza, Anca-Lelia, Budisteanu, Magdalena, Arghir, Aurora
Publicado 2023

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases

por Budisteanu, Magdalena, Jurca, Claudia, Papuc, Sorina Mihaela, Focsa, Ina, Riga, Dan, Riga, Sorin, Jurca, Alexandru, Arghir, Aurora
Publicado 2020

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

por Abela, Lucia, Spiegel, Ronen, Crowther, Lisa M., Klein, Andrea, Steindl, Katharina, Papuc, Sorina Mihaela, Joset, Pascal, Zehavi, Yoav, Rauch, Anita, Plecko, Barbara, Simmons, Thomas Luke
Publicado 2017

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review

por Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena
Publicado 2020

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients

por Budisteanu, Magdalena, Papuc, Sorina Mihaela, Streata, Ioana, Cucu, Mihai, Pirvu, Andrei, Serban-Sosoi, Simona, Erbescu, Alina, Andrei, Emanuela, Iliescu, Catrinel, Ioana, Doina, Severin, Emilia, Ioana, Mihai, Arghir, Aurora
Publicado 2021

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania

por Budisteanu, Magdalena, Papuc, Sorina Mihaela, Erbescu, Alina, Iliescu, Catrinel, Dobre, Maria, Barca, Diana, Tarta-Arsene, Oana, Motoescu, Cristina, Dica, Alice, Sandu, Carmen, Anghelescu, Cristina, Craiu, Dana, Arghir, Aurora
Publicado 2022

Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

por Arghir, Aurora, Popescu, Roxana, Resmerita, Irina, Budisteanu, Magdalena, Butnariu, Lacramioara Ionela, Gorduza, Eusebiu Vlad, Gramescu, Mihaela, Panzaru, Monica Cristina, Papuc, Sorina Mihaela, Sireteanu, Adriana, Tutulan-Cunita, Andreea, Rusu, Cristina
Publicado 2021

Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies

por Papuc, Sorina Mihaela, Erbescu, Alina, Cisleanu, Diana, Ozunu, Diana, Enache, Cristina, Dumitru, Ion, Lupoaia Andrus, Elena, Gaman, Mihaela, Popov, Viola Maria, Dobre, Maria, Stanca, Oana, Angelescu, Silvana, Berbec, Nicoleta, Colita, Andrei, Vladareanu, Ana-Maria, Bumbea, Horia, Arghir, Aurora
Publicado 2021

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

por Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst
Publicado 2015