| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches: features and perspectives
|
Uguen, David
|
|
2014
|
9 |
1 |
|
artikel
|
| 2 |
Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study
|
Vatlach, Scarlet
|
|
2014
|
9 |
1 |
|
artikel
|
| 3 |
Colchicine-free remission in familial Mediterranean fever: featuring a unique subset of the disease-a case control study
|
Ben-Zvi, Ilan
|
|
2014
|
9 |
1 |
|
artikel
|
| 4 |
Evidence-based practice in Behçet’s disease: identifying areas of unmet need for 2014
|
Barry, Robert J
|
|
2014
|
9 |
1 |
|
artikel
|
| 5 |
Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry
|
Bonesso, Laurent
|
|
2014
|
9 |
1 |
|
artikel
|
| 6 |
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study
|
Klingler, Werner
|
|
2014
|
9 |
1 |
|
artikel
|
| 7 |
Glycogenosome accumulation in the arrector pili muscle in Pompe disease
|
Katona, Istvan
|
|
2014
|
9 |
1 |
|
artikel
|
| 8 |
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
|
Chessa, Luciana
|
|
2014
|
9 |
1 |
|
artikel
|
| 9 |
Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
|
Kehrer, Christiane
|
|
2014
|
9 |
1 |
|
artikel
|
| 10 |
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
|
Lin, Hsiang-Yu
|
|
2014
|
9 |
1 |
|
artikel
|
| 11 |
Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics
|
Habekost, Clarissa Troller
|
|
2014
|
9 |
1 |
|
artikel
|
| 12 |
Prevalence of inherited ichthyosis in France: a study using capture-recapture method
|
Dreyfus, Isabelle
|
|
2014
|
9 |
1 |
|
artikel
|
| 13 |
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
|
Boon, Mieke
|
|
2014
|
9 |
1 |
|
artikel
|
| 14 |
Reviewer acknowledgement 2014
|
Aymé, Ségolène
|
|
2014
|
9 |
1 |
|
artikel
|
| 15 |
Single amino acid supplementation in aminoacidopathies: a systematic review
|
van Vliet, Danique
|
|
2014
|
9 |
1 |
|
artikel
|
| 16 |
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
|
Abdel-Salam, Ghada
|
|
2014
|
9 |
1 |
|
artikel
|
| 17 |
Use of biomarkers in the context of orphan medicines designation in the European Union
|
Tsigkos, Stelios
|
|
2014
|
9 |
1 |
|
artikel
|
| 18 |
VPAC2 receptor agonist BAY 55-9837 increases SMN protein levels and moderates disease phenotype in severe spinal muscular atrophy mouse models
|
Hadwen, Jeremiah
|
|
2014
|
9 |
1 |
|
artikel
|
| 19 |
ZEB2, a new candidate gene for asplenia
|
Pons, Linda
|
|
2014
|
9 |
1 |
|
artikel
|
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