| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Clinical characteristics of individual organ system disease in non-motile ciliopathies
|
Grochowsky, Angela
|
|
|
|
1-2 |
p. 1-23
|
artikel
|
| 2 |
Disorders of phenylalanine and tyrosine metabolism
|
Alsharhan, Hind
|
|
|
|
1-2 |
p. 3-58
|
artikel
|
| 3 |
Efficacy and safety of long-term sirolimus use as part of multidisciplinary care in a pediatric patient with CLOVES syndrome: Case report
|
Leonard, Alexis
|
|
|
|
1-2 |
p. 25-32
|
artikel
|
| 4 |
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis
|
Alqarajeh, Firas
|
|
|
|
1-2 |
p. 81-86
|
artikel
|
| 5 |
Lysosomal storage diseases
|
Ferreira, Carlos R.
|
|
2017
|
|
1-2 |
p. 1-71
|
artikel
|
| 6 |
Marking 15 years of the Genetic and Rare Diseases Information Center
|
Lewis, Janine
|
|
2017
|
|
1-2 |
p. 77-88
|
artikel
|
| 7 |
Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us?
|
Sen, Kuntal
|
|
|
|
1-2 |
p. 87-95
|
artikel
|
| 8 |
Navigating Rare Diseases
|
Mohan Jr. , Charles A.
|
|
|
|
1-2 |
p. 1-2
|
artikel
|
| 9 |
Novel Treatments for Polycystic Kidney Disease
|
Patil, Ameya
|
|
|
|
1-2 |
p. 77-86
|
artikel
|
| 10 |
Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia
|
Leigh, Margaret W.
|
|
|
|
1-2 |
p. 51-75
|
artikel
|
| 11 |
Report of the 2021 Primary Ciliary Dyskinesia Foundation annual meeting
|
Saba, Thomas G.
|
|
|
|
1-2 |
p. 33-36
|
artikel
|
| 12 |
Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies
|
Chen, Holly Yu
|
|
|
|
1-2 |
p. 97-115
|
artikel
|
| 13 |
Strategies to improve the quality of reference networks for rare diseases
|
Vandevelde, Nathalie M.
|
|
|
|
1-2 |
p. 59-79
|
artikel
|
| 14 |
The effects of disease-related symptoms on daily function in Wolfram Syndrome
|
Doty, Tasha
|
|
2017
|
|
1-2 |
p. 89-100
|
artikel
|
| 15 |
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
|
Parisi, Melissa A.
|
|
|
|
1-2 |
p. 25-49
|
artikel
|
| 16 |
The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study
|
Regier, Debra S.
|
|
|
|
1-2 |
p. 1-11
|
artikel
|
| 17 |
Transition of care of patients with eosinophilic gastrointestinal diseases: Challenges and opportunities
|
Hiremath, Girish
|
|
|
|
1-2 |
p. 13-23
|
artikel
|
| 18 |
Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies
|
Molinari, Elisa
|
|
|
|
1-2 |
p. 87-95
|
artikel
|
| 19 |
Vanishing bone tumor (Gorham-Stout syndrome): A case report
|
Jindal, Mohit
|
|
2017
|
|
1-2 |
p. 73-76
|
artikel
|
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