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Niceta, Marcello
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1

BCL11B‐Related Dystonia: Further Evidence of an Emerging Ca..:

Garone, Giacomo ; Capuano, Alessandro ; Amodio, Donato...
Movement Disorders Clinical Practice.  , 2024
Link: https://doi.org/10.1002/..
 
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2

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

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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4

DNA methylation profiling in Kabuki syndrome: reclassificat..:

Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco...
European Journal of Human Genetics.  32 (2024)  7 - p. 819-826 , 2024
Link: https://doi.org/10.1038/..
 
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5

Massive pericardial effusion in an infant with Aymé–Gripp s..:

Esposito, Arianna ; Niceta, Marcello ; Novelli, Antonio...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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6

Defining the variant-phenotype correlation in patients affe..:

Gazzin, Andrea ; Fornari, Federico ; Niceta, Marcello...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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7

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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8

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics.  104 (2023)  2 - p. 186-197 , 2023
Link: https://doi.org/10.1111/..
 
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9

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics.  110 (2023)  5 - p. 774-789 , 2023
Link: https://doi.org/10.1016/..
 
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10

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine.  25 (2023)  7 - p. 100859 , 2023
Link: https://doi.org/10.1016/..
 
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11

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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12

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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13

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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14

Biallelic variants in ZNF142 lead to a syndromic neurodevel..:

Christensen, Maria B. ; Levy, Amanda M. ; Mohammadi, Nazanin A....
Clinical Genetics.  102 (2022)  2 - p. 98-109 , 2022
Link: https://doi.org/10.1111/..
 
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15

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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