RICCI, MARIA LUISA
RICCI, MARIA LUISA
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Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
2023 Mei, Davide; Parrini, Elena; Bianchini, Claudia; Ricci, Maria Luisa; Guerrini, Renzo
Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene
2024 Parrini E.; Balestrini S.; Rutigliano D.; Ricci M.; Mei D.; Guerrini R.
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
2024 Cetica, Valentina; Cavallin, Mara; Ricci, Maria Luisa; Mandorlini, Claudia; Bartolini, Emanuele; Parrini, Elena; Guerrini, Renzo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1 | 2023 | Mei, Davide; Parrini, Elena; Bianchini, Claudia; Ricci, Maria Luisa; Guerrini, Renzo | |
| Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene | 2024 | Parrini E.; Balestrini S.; Rutigliano D.; Ricci M.; Mei D.; Guerrini R. | |
| Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder | 2024 | Cetica, Valentina; Cavallin, Mara; Ricci, Maria Luisa; Mandorlini, Claudia; Bartolini, Emanuele; Parrini, Elena; Guerrini, Renzo |