| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Author Index
|
|
|
2006
|
88 |
4 |
p. 392-394
3 p.
|
artikel
|
| 2 |
Combined methylmalonic aciduria and homocystinuria (cblC): Phenotype–genotype correlations and ethnic-specific observations
|
Morel, Chantal F.
|
|
2006
|
88 |
4 |
p. 315-321
7 p.
|
artikel
|
| 3 |
Conserved family of glycerol kinase loci in Drosophila melanogaster
|
Martinez Agosto, Julian A.
|
|
2006
|
88 |
4 |
p. 334-345
12 p.
|
artikel
|
| 4 |
Cover 2 / Ed. Board
|
|
|
2006
|
88 |
4 |
p. CO2-
1 p.
|
artikel
|
| 5 |
Diversity of the CYP21A2 gene: A 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P
|
Lee, Hsien-Hsiung
|
|
2006
|
88 |
4 |
p. 372-377
6 p.
|
artikel
|
| 6 |
Erratum to “Laminopathies: Multisystem dystrophy syndromes” [Mol. Genet. Metab. 87 (2006) 289–302]
|
Jacob, Katherine N.
|
|
2006
|
88 |
4 |
p. 391-
1 p.
|
artikel
|
| 7 |
Genetics of osteoporosis
|
Huang, Qing-Yang
|
|
2006
|
88 |
4 |
p. 295-306
12 p.
|
artikel
|
| 8 |
High incidence of hyperoxaluria in generalized peroxisomal disorders
|
van Woerden, Christiaan S.
|
|
2006
|
88 |
4 |
p. 346-350
5 p.
|
artikel
|
| 9 |
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: A novel cause of mild methylmalonic aciduria
|
Dobson, C. Melissa
|
|
2006
|
88 |
4 |
p. 327-333
7 p.
|
artikel
|
| 10 |
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
|
Merritt II, J. Lawrence
|
|
2006
|
88 |
4 |
p. 351-358
8 p.
|
artikel
|
| 11 |
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency
|
Kaplan, Paige
|
|
2006
|
88 |
4 |
p. 322-326
5 p.
|
artikel
|
| 12 |
Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
|
Enns, Gregory M.
|
|
2006
|
88 |
4 |
p. 364-371
8 p.
|
artikel
|
| 13 |
Newborn screening for lysosomal storage disorders
|
Meikle, Peter J.
|
|
2006
|
88 |
4 |
p. 307-314
8 p.
|
artikel
|
| 14 |
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy
|
Savelkoul, Paul J.M.
|
|
2006
|
88 |
4 |
p. 389-390
2 p.
|
artikel
|
| 15 |
SMIT1 haploinsufficiency causes brain inositol deficiency without affecting lithium-sensitive behavior
|
Shaldubina, Alona
|
|
2006
|
88 |
4 |
p. 384-388
5 p.
|
artikel
|
| 16 |
Table of Contents
|
|
|
2006
|
88 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 17 |
The angiotensin-I converting enzyme I/D polymorphism is not associated with type 2 diabetes in individuals undergoing coronary angiography. (The Ludwigshafen Risk and Cardiovascular Health Study)
|
Grammer, Tanja B.
|
|
2006
|
88 |
4 |
p. 378-383
6 p.
|
artikel
|
| 18 |
Volume Contents
|
|
|
2006
|
88 |
4 |
p. III-VII
nvt p.
|
artikel
|
| 19 |
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients
|
Bargal, Ruth
|
|
2006
|
88 |
4 |
p. 359-363
5 p.
|
artikel
|
Tijdschrift beschrijving