I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
GANA, Simone
33
results:
Articles (Online) X
Search for persons
X
Sorted by: Relevance
Sorted by: Year
?
1
Glycogen storage disease type V: a still under-recognized c..:
Ravaglia, Sabrina
;
Gana, Simone
;
Valente, Enza Maria
Pediatric Research. , 2024
Link:
https://doi.org/10.1038/..
?
2
Novel molecular, structural and clinical findings in an Ita..:
Lecca, Mauro
;
Mauri, Lucia
;
Gana, Simone
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
?
3
Functional Study of SNCA p.V15A Variant: Further Linking α‐..:
Avenali, Micol
;
Cerri, Silvia
;
Palmieri, Ilaria
...
Movement Disorders. 39 (2024) 6 - p. 1060-1065 , 2024
Link:
https://doi.org/10.1002/..
?
4
Burden re-analysis of neurodevelopmental disorder cohorts f..:
Smal, Noor
;
Majdoub, Fatma
;
Janssens, Katrien
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
5
LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patien..:
Gana, Simone
;
Di Biagio, Marta
;
Carraro, Laura
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
6
Joubert syndrome and hydrocephalus: Further expanding the p..:
Gana, Simone
;
Valente, Enza Maria
Developmental Medicine & Child Neurology. 66 (2024) 7 - p. 834-835 , 2024
Link:
https://doi.org/10.1111/..
?
7
Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐r..:
Politano, Davide
;
D'Abrusco, Fulvio
;
Pasca, Ludovica
...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/..
?
8
Marked intrafamilial variability of clinical and neuroimagi..:
Gana, Simone
;
Serpieri, Valentina
;
Giorgio, Elisa
...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1395-1400 , 2023
Link:
https://doi.org/10.1002/..
?
9
Recurrent, founder and hypomorphic variants contribute to t..:
Serpieri, Valentina
;
Mortarini, Giulia
;
Loucks, Hailey
...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023
Link:
https://doi.org/10.1136/..
?
10
A novel variant in NEUROD2 in a patient with Rett-like phen..:
POLITANO, Davide
;
GANA, Simone
;
PEZZOTTI, Elena
...
Brain and Development. 45 (2023) 3 - p. 179-184 , 2023
Link:
https://doi.org/10.1016/..
?
11
Genotype–phenotype correlates in Joubert syndrome: A review:
Gana, Simone
;
Serpieri, Valentina
;
Valente, Enza Maria
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190 (2022) 1 - p. 72-88 , 2022
Link:
https://doi.org/10.1002/..
?
12
Histologic heterogeneity and syndromic associations of non-..:
Carbone, Riccardo
;
Rovedatti, Laura
;
Lenti, Marco Vincenzo
...
Digestive and Liver Disease. 53 (2021) 12 - p. 1647-1654 , 2021
Link:
https://doi.org/10.1016/..
?
13
PSEN1 Compound Heterozygous Mutations Associated with Cereb..:
Palmieri, Ilaria
;
Valente, Marialuisa
;
Farina, Lisa
...
International Journal of Molecular Sciences. 22 (2021) 8 - p. 3870 , 2021
Link:
https://doi.org/10.3390/..
?
14
WITHDRAWN: Schuurs‐Hoeijmakers syndrome: Severe expression ..:
Gana, Simone
;
Morelli, Federica
;
Plumari, Massimo
...
Brain and Development. , 2021
Link:
https://doi.org/10.1016/..
?
15
CDKL5 deficiency disorder in males: Five new variants and r..:
Siri, Barbara
;
Varesio, Costanza
;
Freri, Elena
...
European Journal of Paediatric Neurology. 33 (2021) - p. 9-20 , 2021
Link:
https://doi.org/10.1016/..
1-15