I agree that this site is using cookies. You can find further informations here.
X
Scarano, Emanuela
89  results:
Search for persons X
?
1

Endocrine features of Prader-Willi syndrome: a narrative re..:

Madeo, Simona F. ; Zagaroli, Luca ; Vandelli, Sara...
Frontiers in Endocrinology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
?
2

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E. ; Ockeloen, Charlotte W....
Epilepsia Open.  8 (2023)  4 - p. 1300-1313 , 2023
Link: https://doi.org/10.1002/..
 
?
3

Real-life long-term efficacy and safety of recombinant huma..:

Bruzzi, Patrizia ; Vannelli, Silvia ; Scarano, Emanuela...
Endocrine Connections.  12 (2023)  7 - p. , 2023
Link: https://doi.org/10.1530/..
 
?
4

Lipid profile in Noonan syndrome and related disorders: tre..:

Tamburrino, Federica ; Mazzanti, Laura ; Scarano, Emanuela...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
?
5

The Italian registry for patients with Prader–Willi syndrom:

Salvatore, Marco ; Torreri, Paola ; Grugni, Graziano...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
6

Chromosomal Microarray Analysis Identifies a Novel SALL1 De..:

Innoceta, Anna Maria ; Olivucci, Giulia ; Parmeggiani, Giulia...
Genes.  14 (2023)  2 - p. 258 , 2023
Link: https://doi.org/10.3390/..
 
?
7

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/..
 
?
8

Endocrinological manifestations in RASopathies:

Tamburrino, Federica ; Scarano, Emanuela ; Schiavariello, Concetta...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  4 - p. 471-477 , 2022
Link: https://doi.org/10.1002/..
 
?
9

New clinical features in an adult patient with Skraban‐Dear..:

Innella, Giovanni ; Scarano, Emanuela ; Palumbo, Pietro..
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 306-309 , 2022
Link: https://doi.org/10.1002/..
 
?
10

Chondrodysplasia and growth failure in children after early..:

Botto, Lorenzo D. ; Meeths, Marie ; Campos‐Xavier, Belinda...
American Journal of Medical Genetics Part A.  185 (2021)  2 - p. 517-527 , 2021
Link: https://doi.org/10.1002/..
 
?
11

Growth in Children With Noonan Syndrome and Effects of Grow..:

Libraro, Annachiara ; D'Ascanio, Vito ; Cappa, Marco...
Frontiers in Endocrinology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
?
12

Corrigendum to "Challenges in the clinical interpretation o..:

Magini, Pamela ; Scarano, Emanuela ; Donati, Ilaria...
Gene.  735 (2020)  - p. 144393 , 2020
Link: https://doi.org/10.1016/..
 
?
13

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/..
 
?
14

Delineation of phenotypes and genotypes related to cohesin ..:

Krab, Lianne C. ; Marcos-Alcalde, Iñigo ; Assaf, Melissa...
Human Genetics.  139 (2020)  5 - p. 575-592 , 2020
Link: https://doi.org/10.1007/..
 
?
15

Variants of SOS2 are a rare cause of Noonan syndrome with p..:

Lissewski, Christina ; Chune, Valérie ; Pantaleoni, Francesca...
European Journal of Human Genetics.  29 (2020)  1 - p. 51-60 , 2020
Link: https://doi.org/10.1038/..
 
1-15