Showing 1 - 5 results of 5 for search 'Valeria Orlando', query time: 0.02s
Refine Results
-
1
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disa... by Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano
Published 2020-05-01
Article -
2
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review by Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
Published 2021-11-01
Article -
3
A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic Encephalopathy by Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
Published 2022-10-01
Article -
4
Deep Intronic LINE-1 Insertions in <i>NF1</i>: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements by Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Published 2023-04-01
Article -
5
Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Published 2021-01-01
Article