Peduto, Cristina
18  results:
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5

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
 
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6

Patients with DeSanto–Shinawi syndrome: Further extension o..:

Pasquali, Daniela ; Torella, Annalaura ; Grandone, Anna...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 823-830 , 2022
 
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7

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
 
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8

A novel MEIS2 mutation explains the complex phenotype in a ..:

Santoro, Claudia ; Riccio, Simona ; Palladino, Federica...
European Journal of Medical Genetics.  64 (2021)  5 - p. 104190 , 2021
 
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