SANCHINI, MARIABEATRICE
SANCHINI, MARIABEATRICE
Dipartimento di Scienze mediche
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype
file con accesso da definire2022 Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania
Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene
2021 Balla, C.; De Raffele, M.; Deserio, M. A.; Sanchini, M.; Farnè, M.; Trabanelli, C.; Ragni, L.; Biffi, M.; Ferlini, A.; Rapezzi, C.; Gualandi, F.; Bertini, M.
Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family
2021 Balla, C.; Mele, D.; Vitali, F.; Andreoli, C.; Tonet, E.; Sanchini, M.; Ferlini, A.; Rapezzi, C.; Gualandi, F.; Bertini, M.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
2022 Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype | 2022 | Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, ...Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania | file con accesso da definire |
| Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene | 2021 | Balla, C.; De Raffele, M.; Deserio, M. A.; Sanchini, M.; Farnè, M.; Trabanelli, C.; Ragni, L.; Bi...ffi, M.; Ferlini, A.; Rapezzi, C.; Gualandi, F.; Bertini, M. | |
| Novel SCN5A Variant Shows Multiple Phenotypic Expression in the Same Family | 2021 | Balla, C.; Mele, D.; Vitali, F.; Andreoli, C.; Tonet, E.; Sanchini, M.; Ferlini, A.; Rapezzi, C.;... Gualandi, F.; Bertini, M. | |
| THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder | 2022 | Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; ...Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell |