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Anna Rubegni
94
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1
Congenital Myopathy as a Phenotypic Expression of CACNA1S G..:
Gemma Marinella
;
Alessandro Orsini
;
Massimo Scacciati
...
Molecular Genetics and Genomics. , 2023
Link:
https://doi.org/10.3390/..
?
2
Using Cluster Analysis to Overcome the Limits of Traditiona..:
Claudia Dosi
;
Anna Rubegni
;
Jacopo Baldacci
...
Human Genomics and Genetic Diseases. , 2023
Link:
https://doi.org/10.3390/..
?
3
Congenital Myopathy as a Phenotypic Expression of CACNA1S G..:
Gemma Marinella
;
Alessandro Orsini
;
Massimo Scacciati
...
https://www.mdpi.com/2073-4425/14/7/1363. , 2023
Link:
https://doi.org/10.3390/..
?
4
Novel COX11 Mutations Associated with Mitochondrial Disorde..:
Chenelle A. Caron-Godon
;
Stefania Della Vecchia
;
Alessandro Romano
...
https://www.mdpi.com/1422-0067/24/23/16636. , 2023
Link:
https://doi.org/10.3390/..
?
5
Using Cluster Analysis to Overcome the Limits of Traditiona..:
Claudia Dosi
;
Anna Rubegni
;
Jacopo Baldacci
...
https://www.mdpi.com/2073-4425/14/2/298. , 2023
Link:
https://doi.org/10.3390/..
?
6
A Schematic Approach to Defining the Prevalence of COL VI V..:
Gemma Marinella
;
Guja Astrea
;
Bianca Buchignani
...
https://www.mdpi.com/1422-0067/23/23/14567. , 2022
Link:
https://doi.org/10.3390/..
?
7
A Schematic Approach to Defining the Prevalence of COL VI V..:
Gemma Marinella
;
Guja Astrea
;
Bianca Buchignani
...
Molecular Pathology, Diagnostics, and Therapeutics. , 2022
Link:
https://doi.org/10.3390/..
?
8
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy..:
Jacopo Baldacci
;
Marco Calderisi
;
Chiara Fiorillo
..
https://dx.doi.org/10.3390/healthcare10030574. , 2022
Link:
https://doi.org/10.3390/..
?
9
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy..:
Jacopo Baldacci
;
Marco Calderisi
;
Chiara Fiorillo
..
https://www.mdpi.com/2227-9032/10/3/574. , 2022
Link:
https://doi.org/10.3390/..
?
10
NGS in Hereditary Ataxia: When Rare Becomes Frequent:
Daniele Galatolo
;
Giovanna De Michele
;
Gabriella Silvestri
...
https://www.mdpi.com/1422-0067/22/16/8490. , 2021
Link:
https://doi.org/10.3390/..
?
11
NGS in Hereditary Ataxia: When Rare Becomes Frequent:
Daniele Galatolo
;
Giovanna De Michele
;
Gabriella Silvestri
...
Molecular Neurobiology. , 2021
Link:
https://doi.org/10.3390/..
?
12
Clinical, imaging, biochemical and molecular features in Le..:
Anna Ardissone
;
Claudio Bruno
;
Daria Diodato
...
https://doi.org/10.1186/s13023-021-02029-3. , 2021
Link:
https://doi.org/10.1186/..
?
13
NGS in hereditay ataxia: when rare becomes frequent:
Daniele Galatolo
;
Giovanna De Michele
;
Gabriella Silvestri
...
info:eu-repo/semantics/altIdentifier/pmid/34445196. , 2021
Link:
http://hdl.handle.net/11..
?
14
Partial Lipodystrophy and LMNA p.R545H Variant:
Silvia Magno
;
Giovanni Ceccarini
;
Andrea Barison
...
https://www.mdpi.com/2077-0383/10/5/1142. , 2021
Link:
https://doi.org/10.3390/..
?
15
Partial Lipodystrophy and LMNA p.R545H Variant:
Silvia Magno
;
Giovanni Ceccarini
;
Andrea Barison
...
Endocrinology & Metabolism. , 2021
Link:
https://doi.org/10.3390/..
1-15