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

by Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons
Published 2017-01-01

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

by Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Published 2021-01-01

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

by Magdalena Budisteanu, Sorina Mihaela Papuc, Ioana Streata, Mihai Cucu, Andrei Pirvu, Simona Serban-Sosoi, Alina Erbescu, Emanuela Andrei, Catrinel Iliescu, Doina Ioana, Emilia Severin, Mihai Ioana, Aurora Arghir
Published 2021-07-01

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

by Aurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Monica Cristina Panzaru, Sorina Mihaela Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu
Published 2021-05-01

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

by Sorina Mihaela Papuc, Alina Erbescu, Diana Cisleanu, Diana Ozunu, Cristina Enache, Ion Dumitru, Elena Lupoaia Andrus, Mihaela Gaman, Viola Maria Popov, Maria Dobre, Oana Stanca, Silvana Angelescu, Nicoleta Berbec, Andrei Colita, Ana-Maria Vladareanu, Horia Bumbea, Aurora Arghir
Published 2021-05-01