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Torrente, Isabella
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1

Production of an induced pluripotent stem cell line CSSi018..:

Casamassa, Alessia ; Rotundo, Giovannina ; Ceresoni, Chiara...
Stem Cell Research.  78 (2024)  - p. 103468 , 2024
Link: https://doi.org/10.1016/..
 
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2

Generation of an induced pluripotent stem cell line CSSi015..:

Rotundo, Giovannina ; Turco, Elisa Maria ; Ruotolo, Giorgia...
Stem Cell Research.  67 (2023)  - p. 103023 , 2023
Link: https://doi.org/10.1016/..
 
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3

Clinical variability in DYNC2H1-related skeletal ciliopathi..:

Piceci-Sparascio, Francesca ; Micale, Lucia ; Torres, Barbara...
European Journal of Human Genetics.  31 (2023)  4 - p. 479-484 , 2023
Link: https://doi.org/10.1038/..
 
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4

Mosaic genome‐wide paternal uniparental disomy after discor..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Marchionni, Enrica...
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 1101-1106 , 2023
Link: https://doi.org/10.1002/..
 
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5

Production of CSSi013-A (9360) iPSC line from an asymptomat..:

D'Anzi, Angela ; Perciballi, Elisa ; Ruotolo, Giorgia...
Stem Cell Research.  63 (2022)  - p. 102835 , 2022
Link: https://doi.org/10.1016/..
 
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6

Generation of an induced pluripotent stem cells line, CSSi0..:

Casamassa, Alessia ; Zanetti, Alessandra ; Ferrari, Daniela...
Stem Cell Research.  63 (2022)  - p. 102846 , 2022
Link: https://doi.org/10.1016/..
 
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7

Generation and characterization of CSSi016-A (9938) human p..:

Maria Turco, Elisa ; Maria Giada Giovenale, Angela ; Rotundo, Giovannina...
Stem Cell Research.  65 (2022)  - p. 102946 , 2022
Link: https://doi.org/10.1016/..
 
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8

DNA Methylation in the Diagnosis of Monogenic Diseases:

Cerrato, Flavia ; Sparago, Angela ; Ariani, Francesca...
Genes.  11 (2020)  4 - p. 355 , 2020
Link: https://doi.org/10.3390/..
 
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9

Common atrium/atrioventricular canal defect and postaxial p..:

Piceci‐Sparascio, Francesca ; Palencia‐Campos, Adrian ; Soto‐Bielicka, Patricia...
Human Mutation.  41 (2020)  12 - p. 2087-2093 , 2020
Link: https://doi.org/10.1002/..
 
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10

Spectrum of epilepsy and electroencephalogram patterns in i..:

Battaglia, Agatino ; Bernardini, Laura ; Torrente, Isabella..
American Journal of Medical Genetics Part A.  170 (2016)  10 - p. 2531-2539 , 2016
Link: https://doi.org/10.1002/..
 
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11

Spinal neurofibromatosis in a family with classical neurofi..:

Nicita, Francesco ; Torrente, Isabella ; Spalice, Alberto...
Journal of Clinical Neuroscience.  21 (2014)  2 - p. 328-330 , 2014
Link: https://doi.org/10.1016/..
 
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12

Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Sig..:

Carecchio, Miryam ; Magliozzi, Monia ; Copetti, Massimiliano...
Movement Disorders.  28 (2013)  6 - p. 787-794 , 2013
Link: https://doi.org/10.1002/..
 
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13

Four-year follow-up study in a NF1 Boy with a focal pontine..:

Parisi, Pasquale ; Persechino, Severino ; Paolino, Maria Chiara...
Italian Journal of Pediatrics.  39 (2013)  1 - p. 10 , 2013
Link: https://doi.org/10.1186/..
 
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14

Novel and recurrent EVC and EVC2 mutations in Ellis-van Cre..:

D'Asdia, Maria Cecilia ; Torrente, Isabella ; Consoli, Federica...
European Journal of Medical Genetics.  56 (2013)  2 - p. 80-87 , 2013
Link: https://doi.org/10.1016/..
 
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15

Evaluation of TP53 mutations with the AmpliChip p53 researc..:

Chiaretti, Sabina ; Tavolaro, Simona ; Marinelli, Marilisa...
Genes, Chromosomes and Cancer.  50 (2011)  4 - p. 263-274 , 2011
Link: https://doi.org/10.1002/..
 
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