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MANCINI, CECILIA
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1

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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2

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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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

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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5

Drift burst test statistic in the presence of infinite vari..:

Mancini, Cecilia
Stochastic Processes and their Applications.  163 (2023)  - p. 535-591 , 2023
Link: https://doi.org/10.1016/..
 
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6

Spinocerebellar ataxia 38: structure–function analysis show..:

Ferrero, Enza ; Di Gregorio, Eleonora ; Ferrero, Marta...
Human Genetics.  142 (2023)  8 - p. 1055-1076 , 2023
Link: https://doi.org/10.1007/..
 
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7

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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8

Congenital heart defects in CTNNB1 syndrome: Raising clinic..:

Sinibaldi, Lorenzo ; Garone, Giacomo ; Mandarino, Alessandra...
Clinical Genetics.  104 (2023)  5 - p. 528-541 , 2023
Link: https://doi.org/10.1111/..
 
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9

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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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

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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12

Time evaluation and its accuracy in eating disorders: diffe..:

Meneguzzo, Paolo ; Mancini, Cecilia ; Ormitti, Aurora..
Eating and Weight Disorders - Studies on Anorexia, Bulimia and Obesity.  27 (2022)  7 - p. 2551-2560 , 2022
Link: https://doi.org/10.1007/..
 
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13

Biallelic Inactivating TUB Variants Cause Retinal Ciliopath..:

Ziccardi, Lucia ; Niceta, Marcello ; Stellacci, Emilia...
International Journal of Molecular Sciences.  23 (2022)  23 - p. 14656 , 2022
Link: https://doi.org/10.3390/..
 
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14

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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15

Complex Presentation of Hao-Fountain Syndrome Solved by Exo..:

Priolo, Manuela ; Mancini, Cecilia ; Pizzi, Simone...
Genes.  13 (2022)  5 - p. 889 , 2022
Link: https://doi.org/10.3390/..
 
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