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Baldassari, Simona
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1

Generation of IGGi003-A induced pluripotent stem cell line ..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research.  76 (2024)  - p. 103324 , 2024
Link: https://doi.org/10.1016/..
 
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2

Generation of two iPSC lines from Mowat-Wilson syndrome pat..:

Gorrieri, Giulia ; Tamburro, Serena ; Baldassari, Simona...
Stem Cell Research.  76 (2024)  - p. 103333 , 2024
Link: https://doi.org/10.1016/..
 
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3

De novo variants in DENND5B cause a neurodevelopmental diso..:

Scala, Marcello ; Tomati, Valeria ; Ferla, Matteo...
The American Journal of Human Genetics.  111 (2024)  3 - p. 529-543 , 2024
Link: https://doi.org/10.1016/..
 
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4

Variants in the WDR44 WD40-repeat domain cause a spectrum o..:

Accogli, Andrea ; Shakya, Saurabh ; Yang, Taewoo...
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

Allelic heterogeneity and abnormal vesicle recycling in PLA..:

Iacomino, Michele ; Houerbi, Nadia ; Fortuna, Sara...
Frontiers in Molecular Neuroscience.  17 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric..:

Ognibene, Marzia ; Scala, Marcello ; Iacomino, Michele...
Cancers.  15 (2023)  6 - p. 1916 , 2023
Link: https://doi.org/10.3390/..
 
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7

Generation of an induced pluripotent stem cell line (IGGi00..:

Dębczyński, Michał ; Mojsak, Damian ; Tamburro, Serena...
Stem Cell Research.  72 (2023)  - p. 103232 , 2023
Link: https://doi.org/10.1016/..
 
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8

Generation of induced pluripotent stem cell lines from a pa..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research.  66 (2023)  - p. 103007 , 2023
Link: https://doi.org/10.1016/..
 
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9

Expanding the phenotype associated with biallelic SLC20A2 v..:

D'Onofrio, Gianluca ; Scala, Marcello ; Severino, Mariasavina...
European Journal of Human Genetics.  31 (2023)  7 - p. 725-729 , 2023
Link: https://doi.org/10.1038/..
 
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10

Vesicular Glutamate Release from Feeder-FreehiPSC-Derived N..:

Baldassari, Simona ; Cervetto, Chiara ; Amato, Sarah...
International Journal of Molecular Sciences.  23 (2022)  18 - p. 10545 , 2022
Link: https://doi.org/10.3390/..
 
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11

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Dev..:

Accogli, Andrea ; Lu, Shenzhao ; Musante, Ilaria...
The Cerebellum.  22 (2022)  2 - p. 206-222 , 2022
Link: https://doi.org/10.1007/..
 
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12

CFTR Rescue by Lumacaftor (VX-809) Induces an Extensive Reo..:

Braccia, Clarissa ; Christopher, Josie A. ; Crook, Oliver M....
Cells.  11 (2022)  12 - p. 1938 , 2022
Link: https://doi.org/10.3390/..
 
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13

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syn..:

Riva, Antonella ; Nobile, Giulia ; Giacomini, Thea...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Genotype–phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
Orphanet Journal of Rare Diseases.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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15

Clinical and Genetic Features in Patients With Reflex Bathi..:

Accogli, Andrea ; Wiegand, Gert ; Scala, Marcello...
Neurology.  97 (2021)  6 - p. , 2021
Link: https://doi.org/10.1212/..
 
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