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Augello, Bartolomeo
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1

Clinical and molecular description of the first Italian coh..:

Cinque, Luigia ; Pugliese, Flavia ; Salcuni, Antonio Stefano...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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2

Circadian Genes Expression Patterns in Disorders Due to Enz..:

Savino, Maria ; Guida, Claudio Carmine ; Nardella, Maria...
Biomedicines.  10 (2022)  12 - p. 3198 , 2022
Link: https://doi.org/10.3390/..
 
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3

Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Sk..:

Fusco, Carmela ; Nardella, Grazia ; Augello, Bartolomeo...
International Journal of Molecular Sciences.  21 (2020)  14 - p. 5141 , 2020
Link: https://doi.org/10.3390/..
 
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4

Expanding the phenotype associated to KMT2A variants: overl..:

Di Fede, Elisabetta ; Massa, Valentina ; Augello, Bartolomeo...
European Journal of Human Genetics.  29 (2020)  1 - p. 88-98 , 2020
Link: https://doi.org/10.1038/..
 
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5

Mutational spectrum and clinical signatures in 114 families..:

Fusco, Carmela ; Nardella, Grazia ; Fischetto, Rita...
Human Molecular Genetics.  28 (2019)  13 - p. 2133-2142 , 2019
Link: https://doi.org/10.1093/..
 
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6

Novel TNXB Variants in Two Italian Patients with Classical-..:

Micale, Lucia ; Guarnieri, Vito ; Augello, Bartolomeo...
Genes.  10 (2019)  12 - p. 967 , 2019
Link: https://doi.org/10.3390/..
 
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7

Generation of the induced human pluripotent stem cell lines..:

Malerba, Natascia ; Benzoni, Patrizia ; Squeo, Gabriella Maria...
Stem Cell Research.  40 (2019)  - p. 101547 , 2019
Link: https://doi.org/10.1016/..
 
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8

TRIM50 regulates Beclin 1 proautophagic activity:

Fusco, Carmela ; Mandriani, Barbara ; Di Rienzo, Martina...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research.  1865 (2018)  6 - p. 908-919 , 2018
Link: https://doi.org/10.1016/..
 
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9

Dissecting KMT2D missense mutations in Kabuki syndrome pati..:

Cocciadiferro, Dario ; Augello, Bartolomeo ; De Nittis, Pasquelena...
Human Molecular Genetics.  27 (2018)  21 - p. 3651-3668 , 2018
Link: https://doi.org/10.1093/..
 
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10

MYC-containing amplicons in acute myeloid leukemia: genomic..:

L′Abbate, Alberto ; Tolomeo, Doron ; Cifola, Ingrid...
Leukemia.  32 (2018)  10 - p. 2152-2166 , 2018
Link: https://doi.org/10.1038/..
 
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11

Correction: MYC-containing amplicons in acute myeloid leuke..:

L'Abbate, Alberto ; Tolomeo, Doron ; Cifola, Ingrid...
Leukemia.  32 (2018)  10 - p. 2304-2304 , 2018
Link: https://doi.org/10.1038/..
 
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12

Clinical and Neurobehavioral Features of Three Novel Kabuki..:

Lepri, Francesca ; Cocciadiferro, Dario ; Augello, Bartolomeo...
International Journal of Molecular Sciences.  19 (2017)  1 - p. 82 , 2017
Link: https://doi.org/10.3390/..
 
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13

Clock-genes and mitochondrial respiratory activity: Evidenc..:

Scrima, Rosella ; Cela, Olga ; Merla, Giuseppe...
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1857 (2016)  8 - p. 1344-1351 , 2016
Link: https://doi.org/10.1016/..
 
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14

Clock genes-dependent acetylation of complex I sets rhythmi..:

Cela, Olga ; Scrima, Rosella ; Pazienza, Valerio...
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research.  1863 (2016)  4 - p. 596-606 , 2016
Link: https://doi.org/10.1016/..
 
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15

Deregulated expression of cryptochrome genes in human color..:

Mazzoccoli, Gianluigi ; Colangelo, Tommaso ; Panza, Anna...
Molecular Cancer.  15 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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