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1 . Academic Journal
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
저자
by
Beatrice Berti
;
Daniela Verrigni
;
Alessia Nasca
;
Michela Di Nottia
;
Daniela Leone
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7782 (2024)
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7 . Academic Journal
Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes
저자
by
Annamaria Cudini
;
Caterina Nardella
;
Emanuele Bellacchio
;
Alessia Palma
;
Domenico Vittorio Delfino
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2656 (2024)
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7 . Academic Journal
Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia
저자
by
Riccardo Zocchi
;
Emanuele Bellacchio
;
Michela Piccione
;
Raffaella Scardigli
;
Valentina D’Oria
, et al.
소스
Frontiers in Cellular Neuroscience, Vol 17 (2023)
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7 . Academic Journal
Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study
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by
Emanuele Bellacchio
.
소스
International Journal of Molecular Sciences, Vol 25, Iss 1, p 552 (2023)
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3 . Academic Journal
P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
저자
by
Parith Wongkittichote
;
Laura Duque Lasio
;
Martina Magistrati
;
Sheel Pathak
;
Brooke Sample
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100388- (2023)
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7 . Academic Journal
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency
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by
Gerarda Mastrogiorgio
;
Marina Macchiaiolo
;
Paola Sabrina Buonuomo
;
Emanuele Bellacchio
;
Matteo Bordi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation
저자
by
Francesco Callea
;
Paola Francalanci
;
Chiara Grimaldi
;
Francesca Diomedi Camassei
;
Rita Devito
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9996 (2022)
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7 . Academic Journal
Intramolecular Interaction with the E6 Region Stabilizes the Closed Conformation of the N-SH2 Domain and Concurs with the Self-Inhibitory Docking in Downregulating the Activity of the SHP2 Tyrosine Phosphatase: A Molecular Dynamics Study
저자
by
Emanuele Bellacchio
.
소스
International Journal of Molecular Sciences, Vol 23, Iss 9, p 4794 (2022)
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3 . Academic Journal
Expanding the clinical phenotype of IARS2-related mitochondrial disease
저자
by
Barbara Vona
;
Reza Maroofian
;
Emanuele Bellacchio
;
Maryam Najafi
;
Kyle Thompson
, et al.
소스
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-16 (2018)
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7 . Academic Journal
The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation
저자
by
Nadia Panera
;
Marica Meroni
;
Miriam Longo
;
Annalisa Crudele
;
Luca Valenti
, et al.
소스
EBioMedicine, Vol 65, Iss , Pp 103249- (2021)
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