I agree that this site is using cookies. You can find further informations here.
X
Peron, Angela
175  results:
?
1

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/..
 
?
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/..
 
?
3

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/..
 
?
4

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/..
 
?
5

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/..
 
?
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/..
 
?
7

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/..
 
?
8

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/..
 
?
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/..
 
?
10

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/..
 
?
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/..
 
?
12

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/..
 
?
13

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/..
 
?
14

8p23.2-pter Microdeletions: Seven New Cases Narrowing the C..:

Catusi, Ilaria ; Garzo, Maria ; Capra, Anna Paola...
Genes.  12 (2021)  5 - p. 652 , 2021
Link: https://doi.org/10.3390/..
 
?
15

SLC35F1 as a candidate gene for neurodevelopmental disorder..:

Di Fede, Elisabetta ; Peron, Angela ; Colombo, Elisa Adele..
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2238-2240 , 2021
Link: https://doi.org/10.1002/..
 
1-15