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Brunetti‐Pierri, Nicola
390
results:
Search for persons
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Online (390)
Mediatypes
Articles (Online) (194)
Bookchapter (Online) (5)
OpenAccess-fulltext (191)
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1
Liver‐directed gene therapy for inherited metabolic disease:
Baruteau, Julien
;
Brunetti‐Pierri, Nicola
;
Gissen, Paul
Journal of Inherited Metabolic Disease. 47 (2024) 1 - p. 9-21 , 2024
Link:
https://doi.org/10.1002/..
?
2
Joint contractures is a recurrent clinical feature of indiv..:
Peduto, Cristina
;
Cappuccio, Gerarda
;
Zeuli, Roberta
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
3
Liver gene transfer for metabolite detoxification in inheri..:
D'Alessio, Alfonso M.
;
Boffa, Iolanda
;
De Stefano, Lucia
..
FEBS Letters. , 2024
Link:
https://doi.org/10.1002/..
?
4
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/..
?
5
Late‐onset mucopolysaccharidosis type IIIA mimicking Usher ..:
De Falco, Alessandro
;
Karali, Marianthi
;
Criscuolo, Chiara
...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
6
Liver‐directed gene therapy for ornithine aminotransferase ..:
Boffa, Iolanda
;
Polishchuk, Elena
;
De Stefano, Lucia
...
EMBO Molecular Medicine. 15 (2023) 4 - p. , 2023
Link:
https://doi.org/10.15252..
?
7
Gene therapies for mucopolysaccharidoses:
Rossi, Alessandro
;
Brunetti‐Pierri, Nicola
Journal of Inherited Metabolic Disease. 47 (2023) 1 - p. 135-144 , 2023
Link:
https://doi.org/10.1002/..
?
8
Drug screening identifies tazarotene and bexarotene as ther..:
Schlotawa, Lars
;
Tyka, Karolina
;
Kettwig, Matthias
...
EMBO Molecular Medicine. 15 (2023) 3 - p. , 2023
Link:
https://doi.org/10.15252..
?
9
Inborn Metabolic Diseases, Jean‐Marie Saudubray, Matthias R..:
Brunetti‐Pierri, Nicola
Journal of Inherited Metabolic Disease. 46 (2023) 3 - p. 536-536 , 2023
Link:
https://doi.org/10.1002/..
?
10
Peculiar footprints in a child with agenesis of corpus call..:
Cappuccio, Gerarda
;
Genesio, Rita
;
Pignataro, Piero
.
Journal of Paediatrics and Child Health. , 2022
Link:
https://doi.org/10.1111/..
?
11
Expanded cardiovascular phenotype of Myhre syndrome include..:
Cappuccio, Gerarda
;
Brunetti‐Pierri, Nicola
;
Clift, Paul
...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1384-1395 , 2022
Link:
https://doi.org/10.1002/..
?
12
Are SHROOM4 loss‐of‐function variants pathogenic?:
Peduto, Cristina
;
Piluso, Giulio
;
Nigro, Vincenzo
.
American Journal of Medical Genetics Part A. 188 (2022) 11 - p. 3374-3375 , 2022
Link:
https://doi.org/10.1002/..
?
13
Postnatal microcephaly and retinal involvement expand the p..:
Cappuccio, Gerarda
;
De Bernardi, Margherita Lucia
;
Morlando, Alessia
...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3032-3040 , 2022
Link:
https://doi.org/10.1002/..
?
14
Expanding the phenotype of HNRNPU‐related neurodevelopmenta..:
Taylor, James
;
Spiller, Michael
;
Ranguin, Kara
...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1497-1514 , 2022
Link:
https://doi.org/10.1002/..
?
15
New mouse models with hypomorphic SUMF1 variants mimic atte..:
Sorrentino, Nicolina Cristina
;
Presa, Maximiliano
;
Attanasio, Sergio
...
Journal of Inherited Metabolic Disease. 46 (2022) 2 - p. 335-347 , 2022
Link:
https://doi.org/10.1002/..
1-15