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Scarano, Emanuela
89
results:
Search for persons
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Format
Online (89)
Mediatypes
Articles (Online) (40)
Bookchapter (Online) (1)
OpenAccess-fulltext (48)
Languages
english (79)
italian (1)
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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