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Mucciolo, Mafalda
48
results:
Search for persons
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Format
Online (48)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (28)
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1
Loss-of-function variants in ERF are associated with a Noon..:
Dentici, Maria Lisa
;
Niceta, Marcello
;
Lepri, Francesca Romana
...
European Journal of Human Genetics. 32 (2024) 8 - p. 954-963 , 2024
Link:
https://doi.org/10.1038/..
?
2
The Changing Landscape of Neonatal Diabetes Mellitus in Ita..:
Rapini, Novella
;
Delvecchio, Maurizio
;
Mucciolo, Mafalda
...
The Journal of Clinical Endocrinology & Metabolism. , 2024
Link:
https://doi.org/10.1210/..
?
3
A rare cause of transient neonatal diabetes mellitus: Spont..:
Pezzino, Giulia
;
Ruta, Rosario
;
Rapini, Novella
...
Diabetic Medicine. 41 (2023) 2 - p. , 2023
Link:
https://doi.org/10.1111/..
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4
Correction to: Monogenic diabetes clinic (MDC): 3‑year expe..:
Rapini, Novella
;
Patera, Patrizia I.
;
Schiaffini, Riccardo
...
Acta Diabetologica. 60 (2022) 1 - p. 71-71 , 2022
Link:
https://doi.org/10.1007/..
?
5
Monogenic diabetes clinic (MDC): 3-year experience:
Rapini, Novella
;
Patera, Patrizia I.
;
Schiaffini, Riccardo
...
Acta Diabetologica. 60 (2022) 1 - p. 61-70 , 2022
Link:
https://doi.org/10.1007/..
?
6
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not..:
Baban, Anwar
;
Olivini, Nicole
;
Lepri, Francesca Romana
...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2083-2090 , 2019
Link:
https://doi.org/10.1002/..
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7
Uniparental isodisomy of chromosome 1 results in glycogen s..:
Ponzi, Emanuela
;
Alesi, Viola
;
Lepri, Francesca R.
...
Molecular Genetics & Genomic Medicine. 7 (2019) 5 - p. , 2019
Link:
https://doi.org/10.1002/..
?
8
Providing more evidence on LZTR1 variants in Noonan syndrom..:
Chinton, Josefina
;
Huckstadt, Victoria
;
Mucciolo, Mafalda
...
American Journal of Medical Genetics Part A. 182 (2019) 2 - p. 409-414 , 2019
Link:
https://doi.org/10.1002/..
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9
Complete Scrotal Agenesis: New Surgical Approach Using Self..:
Spagnoli, Antonio
;
Borsellino, Alessandro
;
Crucianelli, Serena
...
Urology. 112 (2018) - p. 169-171 , 2018
Link:
https://doi.org/10.1016/..
?
10
Persistent Hypoglycemia in Children: Targeted Gene Panel Im..:
Ponzi, Emanuela
;
Maiorana, Arianna
;
Lepri, Francesca Romana
...
The Journal of Pediatrics. 202 (2018) - p. 272-278.e4 , 2018
Link:
https://doi.org/10.1016/..
?
11
Renal Tubular Dysfunction Fully Accounts for Plasma Biochem..:
Labbadia, Raffaella
;
Bizzarri, Carla
;
Mucciolo, Mafalda
...
The Journal of Clinical Endocrinology & Metabolism. 104 (2018) 3 - p. 823-826 , 2018
Link:
https://doi.org/10.1210/..
?
12
Lipoid congenital adrenal hyperplasia by steroidogenic acut..:
Bizzarri, Carla
;
Pisaneschi, Elisa
;
Mucciolo, Mafalda
...
Italian Journal of Pediatrics. 43 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/..
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13
Next Generation Sequencing Approach in a Prenatal Case of C..:
Mucciolo, Mafalda
;
Dello Russo, Claudio
;
D'Emidio, Laura
..
International Journal of Molecular Sciences. 17 (2016) 6 - p. 952 , 2016
Link:
https://doi.org/10.3390/..
?
14
Interstitial 22q13 deletions not involving SHANK3 gene: A n..:
Disciglio, Vittoria
;
Rizzo, Caterina Lo
;
Mencarelli, Maria Antonietta
...
American Journal of Medical Genetics Part A. 164 (2014) 7 - p. 1666-1676 , 2014
Link:
https://doi.org/10.1002/..
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15
Overlapping microdeletions involving 15q22.2 narrow the cri..:
Yamamoto, Toshiyuki
;
Mencarelli, Maria Antonietta
;
Di Marco, Chiara
...
European Journal of Medical Genetics. 57 (2014) 4 - p. 163-168 , 2014
Link:
https://doi.org/10.1016/..
1-15