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Pasini, Barbara
322  results:
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1

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100309 , 2024
Link: https://doi.org/10.1016/..
 
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2

Phenotype reversion as "natural gene therapy" in Fanconi an..:

Persico, Ilaria ; Fiscarelli, Ilaria ; Pelle, Alessandra...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Identification of a robust DNA methylation signature for Fa..:

Pagliara, Daria ; Ciolfi, Andrea ; Pedace, Lucia...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1938-1949 , 2023
Link: https://doi.org/10.1016/..
 
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4

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics.  142 (2023)  6 - p. 785-808 , 2023
Link: https://doi.org/10.1007/..
 
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5

Phenotypic and Dermoscopic Patterns of Familial Melanocytic..:

Roccuzzo, Gabriele ; Giordano, Silvia ; Granato, Thomas...
Cancers.  15 (2023)  15 - p. 3772 , 2023
Link: https://doi.org/10.3390/..
 
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6

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
European Journal of Human Genetics.  31 (2023)  11 - p. 1228-1236 , 2023
Link: https://doi.org/10.1038/..
 
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7

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy..:

Roveta, Fausto ; Marcinnò, Andrea ; Grassini, Alberto...
Journal of Alzheimer's Disease Reports.  7 (2023)  1 - p. 469-473 , 2023
Link: https://doi.org/10.3233/..
 
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8

Gynecological Cancers in Lynch Syndrome: A Comparison of th..:

Bounous, Valentina Elisabetta ; Robba, Elisabetta ; Perotto, Stefania...
Journal of Clinical Medicine.  11 (2022)  13 - p. 3689 , 2022
Link: https://doi.org/10.3390/..
 
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9

From SGAP-Model to SGAP-Score: A Simplified Predictive Tool..:

Parasiliti-Caprino, Mirko ; Bioletto, Fabio ; Lopez, Chiara...
Biomedicines.  10 (2022)  6 - p. 1310 , 2022
Link: https://doi.org/10.3390/..
 
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10

Collision of germline POLE and PMS2 variants in a young pat..:

Berrino, Enrico ; Filippi, Roberto ; Visintin, Clara...
npj Precision Oncology.  6 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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11

Cell‐free DNA screening for fetal aneuploidy using the roll..:

Pavanello, Enza ; Sciarrone, Andrea ; Guaraldo, Varvara...
Prenatal Diagnosis.  41 (2021)  13 - p. 1694-1700 , 2021
Link: https://doi.org/10.1002/..
 
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12

Analysis of Italian BRCA1/2 Pathogenic Variants Identifies ..:

Figlioli, Gisella ; De Nicolo, Arcangela ; Catucci, Irene...
Cancers.  13 (2021)  3 - p. 532 , 2021
Link: https://doi.org/10.3390/..
 
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13

Congenital Sensorineural Hearing Loss and Inborn Pigmentary..:

Gironi, Laura Cristina ; Colombo, Enrico ; Brusco, Alfredo...
Medicina.  55 (2019)  7 - p. 345 , 2019
Link: https://doi.org/10.3390/..
 
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14

Design of a multiplex ligation-dependent probe amplificatio..:

Giorgio, Elisa ; Garelli, Emanuela ; Carando, Adriana...
Journal of Human Genetics.  64 (2019)  11 - p. 1083-1090 , 2019
Link: https://doi.org/10.1038/..
 
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15

BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Surv..:

Capoluongo, Ettore ; La Verde, Nicla ; Barberis, Massimo...
Diagnostics.  9 (2019)  4 - p. 146 , 2019
Link: https://doi.org/10.3390/..
 
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