E-LIB Suche - Ergebnisse für: Bellacchio, E

1

The role of variant rs17618244 of KLB gene in MAFLD-related..:

Panera, N. ; Meroni, M. ; Longo, M....
Digestive and Liver Disease. 53 (2021) - p. S25-S26 , 2021

Link: https://doi.org/10.1016/..

2

Biallelic Variants in the Nuclear Pore Complex Protein NUP9..:

Zanni, Ginevra ; De Magistris, P. ; Nardella, M....
The Cerebellum. 18 (2019) 3 - p. 422-432 , 2019

Link: https://doi.org/10.1007/..

3

EP.126Congenital fiber type disproportion related to novel ..:

Fattori, F. ; D'Amico, A. ; Verardo, M....
Neuromuscular Disorders. 29 (2019) - p. S204 , 2019

Link: https://doi.org/10.1016/..

4

Correction to: Biallelic Variants in the Nuclear Pore Compl..:

Zanni, Ginevra ; De Magistris, P. ; Nardella, M....
The Cerebellum. 18 (2019) 3 - p. 433-434 , 2019

Link: https://doi.org/10.1007/..

5

The Vici syndrome protein EPG5 regulates intracellular nucl..:

Piano Mortari, E. ; Folgiero, V. ; Marcellini, V....
Autophagy. 14 (2018) 1 - p. 22-37 , 2018

Link: https://doi.org/10.1080/..

6

Structural modeling of a novel TERC variant in a patient wi..:

Rinelli, M. ; Bellacchio, E. ; Berardinelli, F....
Annals of Hematology. 98 (2018) 3 - p. 805-807 , 2018

Link: https://doi.org/10.1007/..

7

Intrafamiliar clinical variability of circumferential skin ..:

Dentici, M.L. ; Terracciano, A. ; Bellacchio, E....
Clinical Genetics. 93 (2018) 6 - p. 1223-1228 , 2018

Link: https://doi.org/10.1111/..

8

Two novel mutations in the TSC2 gene causing severe phenoty..:

Cammarata‐Scalisi, F. ; Vidales Moreno, C. ; Stock, F....
Journal of the European Academy of Dermatology and Venereology. 32 (2018) 6 - p. , 2018

Link: https://doi.org/10.1111/..

9

Expanding the histopathological spectrum of CFL2‐related my..:

Fattori, F. ; Fiorillo, C. ; Rodolico, C....
Clinical Genetics. 93 (2018) 6 - p. 1234-1239 , 2018

Link: https://doi.org/10.1111/..

10

Correction to: Structural modeling of a novel TERC variant ..:

Rinelli, M. ; Bellacchio, E. ; Berardinelli, F....
Annals of Hematology. 98 (2018) 3 - p. 809-809 , 2018

Link: https://doi.org/10.1007/..

11

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES:

D'Amico, A. ; Fattori, F. ; Fiorillo, C....
Neuromuscular Disorders. 28 (2018) - p. S101 , 2018

Link: https://doi.org/10.1016/..

12

Expanding the clinical and molecular spectrum of PRMT7 muta..:

Agolini, E. ; Dentici, M.L. ; Bellacchio, E....
Clinical Genetics. 93 (2018) 3 - p. 675-681 , 2018

Link: https://doi.org/10.1111/..

13

Novel mutations in KARS cause hypertrophic cardiomyopathy a..:

Verrigni, D. ; Diodato, D. ; Di Nottia, M....
Clinical Genetics. 91 (2017) 6 - p. 918-923 , 2017

Link: https://doi.org/10.1111/..

14

Congenital myopathy with protein aggregates and nemaline bo..:

Fattori, F. ; Fiorillo, C. ; Rodolico, C....
Neuromuscular Disorders. 27 (2017) - p. S186 , 2017

Link: https://doi.org/10.1016/..

15

De novo T362R mutation in MORC2 causes early onset cerebell..:

Zanni, G. ; Nardella, M. ; Niceta, M....
European Journal of Paediatric Neurology. 21 (2017) - p. e236 , 2017

Link: https://doi.org/10.1016/..