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Peron, Angela
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1

Genetic Epilepsies and Developmental Epileptic Encephalopat..:

Cavirani, Benedetta ; Spagnoli, Carlotta ; Caraffi, Stefano Giuseppe...
International Journal of Molecular Sciences.  25 (2024)  2 - p. 1248 , 2024
Link: https://doi.org/10.3390/..
 
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2

Continuous spike-wave of slow sleep in a patient withKCNB1-..:

Ferrera, Giulia ; Ricci, Emilia ; Peron, Angela...
Neurocase.  30 (2024)  2 - p. 68-72 , 2024
Link: https://doi.org/10.1080/..
 
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3

Natural history of adults with KBG syndrome: A physician-re..:

Bayat, Allan ; Grimes, Hannah ; de Boer, Elke...
Genetics in Medicine.  26 (2024)  8 - p. 101170 , 2024
Link: https://doi.org/10.1016/..
 
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4

Multimodal phenotyping of foveal hypoplasia in albinism and..:

Bacci, Giacomo M. ; Marziali, Elisa ; Bargiacchi, Sara...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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5

P566: Global genetic health assessment project: Let's not l..:

Abu-El-Haija, Aya ; Cook, Stacey ; Keegan, Nathan.
Genetics in Medicine Open.  2 (2024)  - p. 101465 , 2024
Link: https://doi.org/10.1016/..
 
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6

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal..:

West, Hannah D. ; Nellist, Mark ; Brouwer, Rutger W. W....
Human Mutation.  2023 (2023)  - p. 1-18 , 2023
Link: https://doi.org/10.1155/..
 
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7

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics.  31 (2023)  10 - p. 1117-1124 , 2023
Link: https://doi.org/10.1038/..
 
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8

O43: Characterization of the prenatal renal phenotype assoc..:

Verscaj, Courtney ; Velez-Bartolomei, Frances ; Bodle, Ethan...
Genetics in Medicine Open.  1 (2023)  1 - p. 100650 , 2023
Link: https://doi.org/10.1016/..
 
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9

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals w..:

Peron, Angela ; Alfano, Rosa Maria ; Moore, Barry...
Genetics in Medicine Open.  1 (2023)  1 - p. 100295 , 2023
Link: https://doi.org/10.1016/..
 
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10

Characterization of the prenatal renal phenotype associated..:

Verscaj, Courtney P. ; Velez‐Bartolomei, Frances ; Bodle, Ethan...
Prenatal Diagnosis.  44 (2023)  2 - p. 237-246 , 2023
Link: https://doi.org/10.1002/..
 
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11

Delineation of the clinical profile of CNOT2 haploinsuffici..:

Niceta, Marcello ; Pizzi, Simone ; Inzana, Francesca...
Clinical Genetics.  103 (2022)  2 - p. 156-166 , 2022
Link: https://doi.org/10.1111/..
 
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12

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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13

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and..:

Perego, Sara ; Alari, Valentina ; Pietra, Gianluca...
International Journal of Molecular Sciences.  23 (2022)  22 - p. 14491 , 2022
Link: https://doi.org/10.3390/..
 
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14

Epilepsy in adult patients with tuberous sclerosis complex:

Vignoli, Aglaia ; La Briola, Francesca ; Turner, Katherine...
Acta Neurologica Scandinavica.  144 (2021)  1 - p. 29-40 , 2021
Link: https://doi.org/10.1111/..
 
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15

Chromatin Imbalance as the Vertex Between Fetal Valproate S..:

Parodi, Chiara ; Di Fede, Elisabetta ; Peron, Angela...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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