| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency
|
Fukao, Toshiyuki
|
|
2006
|
89 |
3 |
p. 280-282
3 p.
|
artikel
|
| 2 |
A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis
|
Awano, Tomoyuki
|
|
2006
|
89 |
3 |
p. 254-260
7 p.
|
artikel
|
| 3 |
Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNALys point mutations in mitochondrial DNA
|
Guallar, Jordi P.
|
|
2006
|
89 |
3 |
p. 283-285
3 p.
|
artikel
|
| 4 |
A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase
|
Hahnewald, Rita
|
|
2006
|
89 |
3 |
p. 210-213
4 p.
|
artikel
|
| 5 |
Comparison of statistical models for analyzing genotype, inferred haplotype, and molecular haplotype data
|
Wallenstein, Sylvan
|
|
2006
|
89 |
3 |
p. 270-273
4 p.
|
artikel
|
| 6 |
Corrigendum to “Nutritional therapy improves growth and protein status of children with a urea cycle enzyme defect” [Mol. Genet. Metab. 86 (2005) 448–455]
|
Acosta, Phyllis B.
|
|
2006
|
89 |
3 |
p. 288-
1 p.
|
artikel
|
| 7 |
Deletion of Glu at codon 13 of the TCAP gene encoding the titin-cap-telethonin is a rare polymorphism in a large Italian population
|
Marziliano, N.
|
|
2006
|
89 |
3 |
p. 286-287
2 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2006
|
89 |
3 |
p. CO2-
1 p.
|
artikel
|
| 9 |
Erythropoietic protoporphyria: A functional analysis of the leader sequence of human ferrochelatase
|
Cobbold, Christian
|
|
2006
|
89 |
3 |
p. 227-232
6 p.
|
artikel
|
| 10 |
Gene expression profiles of homogentisate-treated Fah−/− Hpd−/−mice using DNA microarrays
|
Tanaka, Yasuhiko
|
|
2006
|
89 |
3 |
p. 203-209
7 p.
|
artikel
|
| 11 |
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
|
van Spronsen, F.J.
|
|
2006
|
89 |
3 |
p. 274-276
3 p.
|
artikel
|
| 12 |
Identification of Alu-mediated, large deletion-spanning exons 2–4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency
|
Zhang, Gaixiu
|
|
2006
|
89 |
3 |
p. 222-226
5 p.
|
artikel
|
| 13 |
Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients
|
Nguyen, Andrew D.
|
|
2006
|
89 |
3 |
p. 233-238
6 p.
|
artikel
|
| 14 |
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
|
Pagnamenta, Alistair T.
|
|
2006
|
89 |
3 |
p. 214-221
8 p.
|
artikel
|
| 15 |
Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
|
Vedder, A.C.
|
|
2006
|
89 |
3 |
p. 239-244
6 p.
|
artikel
|
| 16 |
Role of calcium-sensing receptor in mineral ion metabolism and inherited disorders of calcium-sensing
|
Chattopadhyay, Naibedya
|
|
2006
|
89 |
3 |
p. 189-202
14 p.
|
artikel
|
| 17 |
SIMD Announcement
|
|
|
2006
|
89 |
3 |
p. iv-
1 p.
|
artikel
|
| 18 |
Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation
|
Corbo, Rosa Maria
|
|
2006
|
89 |
3 |
p. 261-269
9 p.
|
artikel
|
| 19 |
Table of Contents
|
|
|
2006
|
89 |
3 |
p. i-ii
nvt p.
|
artikel
|
| 20 |
Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
|
Bessa, C.
|
|
2006
|
89 |
3 |
p. 245-253
9 p.
|
artikel
|
| 21 |
Untreated classical galactosemia patient with mild phenotype
|
Panis, Bianca
|
|
2006
|
89 |
3 |
p. 277-279
3 p.
|
artikel
|
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