E-LIB Suche - Ergebnisse für: Mucciolo, Mafalda

1

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/..

2

Loss-of-function variants in ERF are associated with a Noon..:

Dentici, Maria Lisa ; Niceta, Marcello ; Lepri, Francesca Romana...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

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/..

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

Monogenic diabetes clinic (MDC): 3-year experience:

Rapini, Novella ; Patera, Patrizia I ; Schiaffini, Riccardo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9813184/. , 2022

Link: http://www.ncbi.nlm.nih...

7

Correction to: Monogenic diabetes clinic (MDC): 3‑year expe..:

Rapini, Novella ; Patera, Patrizia I ; Schiaffini, Riccardo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9813014/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Unusual Presentation of Denys-Drash Syndrome in a Girl with..:

Carla Bizzarri ; Germana Antonella Giannone ; Jacopo Gervasoni...
http://www.jcrpe.org/archives/archive-detail/article-preview/unusual-presentation-of-denys-drash-syndrome-in-a-/40067. , 2021

Link: https://doi.org/10.4274/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..