| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease
|
Silao, Catherine Lynn T
|
|
2004
|
81 |
2 |
p. 100-104
5 p.
|
artikel
|
| 2 |
Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population
|
del Bosque-Plata, Laura
|
|
2004
|
81 |
2 |
p. 122-126
5 p.
|
artikel
|
| 3 |
Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene
|
Mak, Chloe M
|
|
2004
|
81 |
2 |
p. 144-146
3 p.
|
artikel
|
| 4 |
Comparative genomic analysis of the HNF-4α transcription factor gene
|
Bagwell, Allison M
|
|
2004
|
81 |
2 |
p. 112-121
10 p.
|
artikel
|
| 5 |
Effects of odd-numbered medium-chain fatty acids on the accumulation of long-chain 3-hydroxy-fatty acids in long-chain L-3-hydroxyacyl CoA dehydrogenase and mitochondrial trifunctional protein deficient skin fibroblasts
|
Jones, Patricia M
|
|
2004
|
81 |
2 |
p. 96-99
4 p.
|
artikel
|
| 6 |
Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase
|
Yager, Claire
|
|
2004
|
81 |
2 |
p. 105-111
7 p.
|
artikel
|
| 7 |
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC
|
Flanagan, Jonathon M
|
|
2004
|
81 |
2 |
p. 133-136
4 p.
|
artikel
|
| 8 |
IFC - Ed. Board
|
|
|
2004
|
81 |
2 |
p. IFC-
1 p.
|
artikel
|
| 9 |
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA
|
Lau, Adeline A
|
|
2004
|
81 |
2 |
p. 86-95
10 p.
|
artikel
|
| 10 |
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria
|
Cerone, R
|
|
2004
|
81 |
2 |
p. 137-139
3 p.
|
artikel
|
| 11 |
Molecular genetics of autosomal recessive polycystic kidney disease
|
Harris, Peter C
|
|
2004
|
81 |
2 |
p. 75-85
11 p.
|
artikel
|
| 12 |
Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects
|
Zhu, Huiping
|
|
2004
|
81 |
2 |
p. 127-132
6 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2004
|
81 |
2 |
p. i-ii
nvt p.
|
artikel
|
| 14 |
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians
|
Berthier, Marie-Thérèse
|
|
2004
|
81 |
2 |
p. 140-143
4 p.
|
artikel
|
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