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

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/..
 
?
2

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/..
 
?
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

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/..
 
?
5

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/..
 
?
6

Novel molecular, structural and clinical findings in an Ita..:

Lecca, Mauro ; Mauri, Lucia ; Gana, Simone...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
?
7

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/..
 
?
8

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/..
 
?
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

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/..
 
?
11

WITHDRAWN: Schuurs‐Hoeijmakers syndrome: Severe expression ..:

Gana, Simone ; Morelli, Federica ; Plumari, Massimo...
Brain and Development.  , 2021
Link: https://doi.org/10.1016/..
 
?
12

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/..
 
?
13

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/..
 
?
14

SUFU haploinsufficiency causes a recognisable neurodevelopm..:

Serpieri, Valentina ; D'Abrusco, Fulvio ; Dempsey, Jennifer C...
Journal of Medical Genetics.  59 (2021)  9 - p. 888-894 , 2021
Link: https://doi.org/10.1136/..
 
?
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