| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design
|
Truxal, K.V.
|
|
2016
|
119 |
3 |
p. 239-248
10 p.
|
artikel
|
| 2 |
Corrigendum to “GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease” [Mol. Genet. Metab. 111 (2014) 393–398]
|
Gotoh, Leo
|
|
2016
|
119 |
3 |
p. 293-
1 p.
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
2016
|
119 |
3 |
p. IFC-
1 p.
|
artikel
|
| 4 |
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation
|
Baresova, Veronika
|
|
2016
|
119 |
3 |
p. 270-277
8 p.
|
artikel
|
| 5 |
Effect of storage time on gene expression data acquired from unfrozen archived newborn blood spots
|
Ho, Nhan T.
|
|
2016
|
119 |
3 |
p. 207-213
7 p.
|
artikel
|
| 6 |
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene
|
Bianciardi, Laura
|
|
2016
|
119 |
3 |
p. 214-222
9 p.
|
artikel
|
| 7 |
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study
|
Naik, Hetanshi
|
|
2016
|
119 |
3 |
p. 278-283
6 p.
|
artikel
|
| 8 |
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism
|
O'Brien, Kevin J.
|
|
2016
|
119 |
3 |
p. 284-287
4 p.
|
artikel
|
| 9 |
Insulin sensitivity predictions in individuals with obesity and type II diabetes mellitus using mathematical model of the insulin signal transduction pathway
|
Ho, Clark K
|
|
2016
|
119 |
3 |
p. 288-292
5 p.
|
artikel
|
| 10 |
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II
|
Yokoi, Takayuki
|
|
2016
|
119 |
3 |
p. 232-238
7 p.
|
artikel
|
| 11 |
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base
|
Camp, Kathryn M.
|
|
2016
|
119 |
3 |
p. 187-206
20 p.
|
artikel
|
| 12 |
Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy
|
Derrick-Roberts, Ainslie L.K.
|
|
2016
|
119 |
3 |
p. 249-257
9 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2016
|
119 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 14 |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer
|
Palhais, Bruno
|
|
2016
|
119 |
3 |
p. 258-269
12 p.
|
artikel
|
| 15 |
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
|
Vockley, J.
|
|
2016
|
119 |
3 |
p. 223-231
9 p.
|
artikel
|
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