I agree that this site is using cookies. You can find further informations here.
X
Niceta, Marcello
152  results:
Search for persons X
?
1

Whole Genome Sequencing Solves an Atypical Form of Bardet–B..:

Stellacci, Emilia ; Niceta, Marcello ; Bruselles, Alessandro...
International Journal of Molecular Sciences.  25 (2024)  15 - p. 8313 , 2024
Link: https://doi.org/10.3390/..
 
?
2

Biallelic Variants of MRPS36 Cause a New Form of Leigh Synd..:

Galosi, Serena ; Mancini, Cecilia ; Commone, Anna...
Movement Disorders.  39 (2024)  7 - p. 1225-1231 , 2024
Link: https://doi.org/10.1002/..
 
?
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.  32 (2024)  8 - p. 954-963 , 2024
Link: https://doi.org/10.1038/..
 
?
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/..
 
?
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/..
 
?
6

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

Gazzin, Andrea ; Fornari, Federico ; Niceta, Marcello...
European Journal of Human Genetics.  32 (2024)  8 - p. 964-971 , 2024
Link: https://doi.org/10.1038/..
 
?
7

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/..
 
?
8

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

Garone, Giacomo ; Capuano, Alessandro ; Amodio, Donato...
Movement Disorders Clinical Practice.  11 (2024)  7 - p. 897-901 , 2024
Link: https://doi.org/10.1002/..
 
?
9

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806450/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
?
10

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

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10774338/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
?
11

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

Andrea Accogli ; Saurabh Shakya ; Taewoo Yang...
https://doi.org/10.1038/s41467-023-44611-2.  , 2024
Link: https://doi.org/10.1038/..
 
?
12

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/..
 
?
13

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/..
 
?
14

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/..
 
?
15

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/..
 
1-15