| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases
|
Balduini, Alessandra
|
|
2018
|
61 |
11 |
p. 715-722
|
article
|
| 2 |
Congenital disorders of glycosylation (CDG): Quo vadis?
|
Péanne, Romain
|
|
2018
|
61 |
11 |
p. 643-663
|
article
|
| 3 |
Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome
|
Peikert, Kevin
|
|
2018
|
61 |
11 |
p. 699-705
|
article
|
| 4 |
Editorial Board
|
|
|
2018
|
61 |
11 |
p. ii
|
article
|
| 5 |
Harmonising phenomics information for a better interoperability in the rare disease field
|
Maiella, Sylvie
|
|
2018
|
61 |
11 |
p. 706-714
|
article
|
| 6 |
Improved molecular platform for the gene therapy of rare diseases by liver protein secretion
|
Quiviger, Mickael
|
|
2018
|
61 |
11 |
p. 723-728
|
article
|
| 7 |
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience
|
Da Costa, Lydie
|
|
2018
|
61 |
11 |
p. 664-673
|
article
|
| 8 |
Novel mosaic variants in two patients with Cornelia de Lange syndrome
|
Pozojevic, Jelena
|
|
2018
|
61 |
11 |
p. 680-684
|
article
|
| 9 |
Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development
|
Bowerman, Melissa
|
|
2018
|
61 |
11 |
p. 685-698
|
article
|
| 10 |
Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?
|
Boivin, Manon
|
|
2018
|
61 |
11 |
p. 674-679
|
article
|
Journal description