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1

Mitochondrial Serine Protease HTRA2 p.G399S in a Female wit..:

Gambardella, Stefano ; Ferese, Rosangela ; Scala, Simona...
Parkinson's Disease. 2018 (2018) - p. 1-6 , 2018

Link: https://doi.org/10.1155/..

2

Distribution of the C9orf72 hexanucleotide repeat expansion..:

Giardina, Emiliano ; Mandich, Paola ; Ghidoni, Roberta...
Frontiers in Neurology. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

3

Best practice guidelines on genetic diagnostics of faciosca..:

Giardina, Emiliano ; Camaño, Pilar ; Burton‐Jones, Sarah...
Clinical Genetics. 106 (2024) 1 - p. 13-26 , 2024

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

4

Innovations in Medicine: Exploring ChatGPT's Impact on Rare..:

Zampatti, Stefania ; Peconi, Cristina ; Megalizzi, Domenica...
Genes. 15 (2024) 4 - p. 421 , 2024

Link: https://doi.org/10.3390/..

5

Interaction between miR-142-3p and BDNF Val/Met Polymorphis..:

Dolcetti, Ettore ; Musella, Alessandra ; Balletta, Sara...
International Journal of Molecular Sciences. 25 (2024) 10 - p. 5253 , 2024

Link: https://doi.org/10.3390/..

6

268th ENMC workshop - Genetic diagnosis, clinical classific..:

Montagnese, Federica ; de Valle, Katy ; Lemmers, Richard J.L.F....
Neuromuscular Disorders. 33 (2023) 5 - p. 447-462 , 2023

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

7

Harmonizing Genetic Testing for Parkinson's Disease: Result..:

Di Fonzo, Alessio ; Percetti, Marco ; Monfrini, Edoardo...
Movement Disorders. 38 (2023) 12 - p. 2241-2248 , 2023

Link: https://doi.org/10.1002/..

8

A Splicing Variant in RDH8 Is Associated with Autosomal Rec..:

Zampatti, Stefania ; Peconi, Cristina ; Calvino, Giulia...
Genes. 14 (2023) 8 - p. 1659 , 2023

Link: https://doi.org/10.3390/..

9

Whole exome sequencing highlights rare variants in CTCF, DN..:

Strafella, Claudia ; Caputo, Valerio ; Bortolani, Sara...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

10

Long-Term Structural and Functional Assessment of Doyne Hon..:

Cusumano, Andrea ; Falsini, Benedetto ; D'Ambrosio, Michele...
Case Reports in Ophthalmology. , 2023

Link: https://doi.org/10.1159/..

11

NIPAT as Non-Invasive Prenatal Paternity Testing Using a Pa..:

Giannico, Riccardo ; Forlani, Luca ; Andrioletti, Valentina...
Genes. 14 (2023) 2 - p. 312 , 2023

Link: https://doi.org/10.3390/..

12

Epigenetic profiling of the D4Z4 locus: Optimization of the..:

Megalizzi, Domenica ; Trastulli, Giulia ; Caputo, Valerio...
ELECTROPHORESIS. 44 (2023) 19-20 - p. 1588-1594 , 2023

Link: https://doi.org/10.1002/..

13

Characterization of D4Z4 alleles and assessment of de novo ..:

Strafella, Claudia ; Colantoni, Luca ; Megalizzi, Domenica...
Clinical Genetics. , 2023

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

14

Autophagy increase in Merosin-Deficient Congenital Muscular..:

Mastrapasqua, Mariangela ; Rossi, Roberta ; De Cosmo, Lucrezia...
European Journal of Translational Myology. 33 (2023) 3 - p. , 2023

Link: https://doi.org/10.4081/..

15

Longitudinal Structure–Function Evaluation in a Patient wit..:

Cusumano, Andrea ; Falsini, Benedetto ; D'Apolito, Fabian...
Diagnostics. 13 (2023) 3 - p. 392 , 2023

Link: https://doi.org/10.3390/..

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