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Radio, Francesca
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1

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Varian..:

Priolo, Manuela ; Radio, Francesca ; Pizzi, Simone...
Genes.  12 (2021)  7 - p. 1009 , 2021
Link: https://doi.org/10.3390/..
 
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2

Bi-allelic variants in SNF8 cause a disease spectrum rangin..:

Brugger, Melanie ; Lauri, Antonella ; Zhen, Yan...
The American Journal of Human Genetics.  111 (2024)  3 - p. 594-613 , 2024
Link: https://doi.org/10.1016/..
 
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3

Case report: Expanding the phenotype of FOXP1-related intel..:

Cesaroni, Carlo Alberto ; Pollazzon, Marzia ; Mancini, Cecilia...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Organizational Aspects of the Implementation and Use of Who..:

Nurchis, Mario Cesare ; Raspolini, Gian Marco ; Heidar Alizadeh, Aurora...
Journal of Personalized Medicine.  13 (2023)  6 - p. 899 , 2023
Link: https://doi.org/10.3390/..
 
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5

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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6

Bayesian cost-effectiveness analysis of Whole genome sequen..:

Nurchis, Mario Cesare ; Radio, Francesca Clementina ; Salmasi, Luca...
The European Journal of Health Economics.  , 2023
Link: https://doi.org/10.1007/..
 
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7

Natural history of MRAS‐related Noonan syndrome: Evidence o..:

Priolo, Manuela ; Mancini, Cecilia ; Radio, Francesca Clementina...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 160-166 , 2023
Link: https://doi.org/10.1002/..
 
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8

Case report: Novel compound heterozygosity for pathogenic v..:

Salzano, Emanuela ; Niceta, Marcello ; Pizzi, Simone...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine.  25 (2023)  4 - p. 100018 , 2023
Link: https://doi.org/10.1016/..
 
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10

Clinical profiling of MRD48 and functional characterization..:

Priolo, Manuela ; Zara, Erika ; Radio, Francesca Clementina...
European Journal of Human Genetics.  31 (2023)  7 - p. 805-814 , 2023
Link: https://doi.org/10.1038/..
 
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11

Whole genome sequencing diagnostic yield for paediatric pat..:

Nurchis, Mario Cesare ; Altamura, Gerardo ; Riccardi, Maria Teresa...
Archives of Public Health.  81 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Case Report: Sequential postzygotic HRAS mutation and gains..:

Zuntini, Roberta ; Cattani, Chiara ; Pedace, Lucia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Delineation of the clinical profile of CNOT2 haploinsuffici..:

Niceta, Marcello ; Pizzi, Simone ; Inzana, Francesca...
Clinical Genetics.  103 (2022)  2 - p. 156-166 , 2022
Link: https://doi.org/10.1111/..
 
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14

SHP2's gain‐of‐function in Werner syndrome causes childhood..:

Priolo, Manuela ; Palermo, Valentina ; Aiello, Francesca...
Clinical Genetics.  102 (2022)  1 - p. 12-21 , 2022
Link: https://doi.org/10.1111/..
 
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15

Dominant ARF3 variants disrupt Golgi integrity and cause a ..:

Fasano, Giulia ; Muto, Valentina ; Radio, Francesca Clementina...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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