nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Assessing knowledge, perceptions, awareness and attitudes on rare diseases among health care providers and health students in Mexico
|
Gómez-Díaz, Benjamín |
|
|
1 |
C |
p. |
artikel |
2 |
A 5-year follow-up of a female patient with Kleine-Levin syndrome: Diagnosis,disease course and management
|
Dayal, Prabhoo |
|
|
1 |
C |
p. |
artikel |
3 |
Clinical free text to HPO codes
|
Stinton, Gabrielle |
|
|
1 |
C |
p. |
artikel |
4 |
Cover 2: Editorial Board
|
|
|
|
1 |
C |
p. |
artikel |
5 |
Cover 1/RARE
|
|
|
|
1 |
C |
p. |
artikel |
6 |
FM: Table of Contents
|
|
|
|
1 |
C |
p. |
artikel |
7 |
Huntington-like disease caused by a novel RNF216/TRIAD3 pathogenic variant
|
Spoljaric, Mario |
|
|
1 |
C |
p. |
artikel |
8 |
Initiating newborn screening for metabolic disorders in Pakistan: A qualitative study of the early challenges and opportunities
|
Wasim, Muhammad |
|
|
1 |
C |
p. |
artikel |
9 |
Launching Rare
|
van Zelst-Stams, Wendy A.G. |
|
|
1 |
C |
p. |
artikel |
10 |
Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example
|
Khalife, Leen |
|
|
1 |
C |
p. |
artikel |
11 |
New view of aceruloplasminemia: Systematic review and meta-analysis tracking dots from onset to disease development and iron-related features
|
Ketata, Imen |
|
|
1 |
C |
p. |
artikel |
12 |
Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases
|
Gahl, William A. |
|
|
1 |
C |
p. |
artikel |
13 |
Sexual and urinary dysfunctions among patients with neuromyelitis optica spectrum disorder (NMOSD): A systematic review
|
Ebrahimi, Narges |
|
|
1 |
C |
p. |
artikel |
14 |
The role of medical students in advocacy for rare diseases – Experience from a Low- and Middle-Income Country (LMIC)
|
Qamar, Javeria Bilal |
|
|
1 |
C |
p. |
artikel |