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Colao, Emma
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1

Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: ..:

Politi, Cristina ; Grillone, Katia ; Nocera, Donatella...
Genes.  15 (2024)  1 - p. 103 , 2024
Link: https://doi.org/10.3390/..
 
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2

Kinase Inhibitors in Genetic Diseases:

D'Antona, Lucia ; Amato, Rosario ; Brescia, Carolina...
International Journal of Molecular Sciences.  24 (2023)  6 - p. 5276 , 2023
Link: https://doi.org/10.3390/..
 
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3

Germline Testing in a Cohort of Patients at High Risk of He..:

Paduano, Francesco ; Colao, Emma ; Fabiani, Fernanda...
Genes.  13 (2022)  7 - p. 1286 , 2022
Link: https://doi.org/10.3390/..
 
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4

The Variant p.Ala84Pro Is Causative of X-Linked Hypophospha..:

Zagari, Maria Carmela ; Chiarello, Paola ; Iuliano, Stefano...
Genes.  14 (2022)  1 - p. 80 , 2022
Link: https://doi.org/10.3390/..
 
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5

820 VARIABLE EXPRESSIVITY OF SCN5A MUTATION IN A FAMILY WIT..:

Malizia, Biagio ; Curcio, Antonio ; Rodolfo, Iuliano...
European Heart Journal Supplements.  24 (2022)  Supplement_K - p. , 2022
Link: https://doi.org/10.1093/..
 
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6

Case Report: Identification of a Novel Pathogenic Germline ..:

Paduano, Francesco ; Fabiani, Fernanda ; Colao, Emma...
Frontiers in Genetics.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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7

A Novel Splicing Variant of COL2A1 in a Fetus with Achondro..:

Bruni, Valentina ; Spoleti, Cristina Barbara ; La Barbera, Andrea...
Genes.  12 (2021)  9 - p. 1395 , 2021
Link: https://doi.org/10.3390/..
 
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8

A Familial Form of Epidermolysis Bullosa Simplex Associated..:

Paduano, Francesco ; Colao, Emma ; Grillone, Teresa...
Genes.  12 (2021)  10 - p. 1503 , 2021
Link: https://doi.org/10.3390/..
 
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9

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplication..:

Paduano, Francesco ; Colao, Emma ; Loddo, Sara...
Genes.  11 (2020)  5 - p. 525 , 2020
Link: https://doi.org/10.3390/..
 
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10

A novel ABCC6 variant causative of pseudoxanthoma elasticum:

Contrò, Gianluca ; Tallerico, Rossana ; Dattilo, Vincenzo...
Human Genome Variation.  6 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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11

Biallelic variants in the ciliary gene TMEM67 cause RHYNS s..:

Undiagnosed Disease Network Italy ; Brancati, Francesco ; Camerota, Letizia...
European Journal of Human Genetics.  26 (2018)  9 - p. 1266-1271 , 2018
Link: https://doi.org/10.1038/..
 
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12

Internet Use and Access, Behavior, Cyberbullying, and Groom..:

Vismara, Marco Flavio Michele ; Toaff, Joseph ; Pulvirenti, Giuliana...
Interactive Journal of Medical Research.  6 (2017)  2 - p. e9 , 2017
Link: https://doi.org/10.2196/..
 
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13

The sodium-phosphate co-transporter SLC34A2, and pulmonary ..:

Vismara, Marco Favio Michele ; Colao, Emma ; Fabiani, Fernanda...
Respiratory Medicine Case Reports.  16 (2015)  - p. 77-80 , 2015
Link: https://doi.org/10.1016/..
 
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14

A Case of Premature Ovarian Failure in a 33-Year-Old Woman:

Colao, Emma ; Granata, Teresa ; Vismara, Marco F. M....
Case Reports in Genetics.  2013 (2013)  - p. 1-5 , 2013
Link: https://doi.org/10.1155/..
 
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15

Kinase Inhibitors in Genetic Diseases:

D'Antona, Lucia ; Amato, Rosario ; Brescia, Carolina...
10.3390/ijms24065276.  , 2023
Link: https://hdl.handle.net/1..
 
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