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

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

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/..

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/..

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/..