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Niceta, Marcello
152
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Online (152)
Mediatypes
Articles (Online) (55)
OpenAccess-fulltext (97)
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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/..
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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/..
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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. 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/..
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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...
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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/..
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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/..
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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