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GANA, Simone
71  results:
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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/..
 
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2

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/..
 
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3

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/..
 
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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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
0022-2593.  , 2023
Link: https://resolver.sub.uni..
 
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12

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
info:eu-repo/semantics/altIdentifier/pmid/36788019.  , 2023
Link: https://hdl.handle.net/1..
 
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13

Recurrent, founder and hypomorphic variants contribute to t..:

Serpieri, Valentina ; Mortarini, Giulia ; Loucks, Hailey...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447400/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

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/..
 
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15

Recurrent, founder and hypomorphic variants contribute to s..:

Serpieri Valentina ; Mortarini Giulia ; Loucks Hailey...
doi:10.1136/jmg-2022-108725.  , 2022
Link: https://zenodo.org/recor..
 
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