| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A functional variant of IRS1 is associated with type 1 diabetes in families from the US and UK
|
Morrison, V.Anne
|
|
2004
|
81 |
4 |
p. 291-294
4 p.
|
artikel
|
| 2 |
A novel missense mutation, c.584A> C (Y195S), in two unrelated Argentine patients with hypoxanthine–guanine phosphoribosyl-transferase deficiency, neurological variant
|
Laróvere, L.E
|
|
2004
|
81 |
4 |
p. 352-354
3 p.
|
artikel
|
| 3 |
Cofactor treatment improves ATP synthetic capacity in patients with oxidative phosphorylation disorders
|
Marriage, Barbara J
|
|
2004
|
81 |
4 |
p. 263-272
10 p.
|
artikel
|
| 4 |
Evolutionary divergence of thyrotropin receptor structure
|
Knudsen, Bjarne
|
|
2004
|
81 |
4 |
p. 322-334
13 p.
|
artikel
|
| 5 |
Genetic risk for coronary artery disease in individuals with or without type 2 diabetes
|
Yamada, Yoshiji
|
|
2004
|
81 |
4 |
p. 282-290
9 p.
|
artikel
|
| 6 |
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
|
Kojima, Kanako
|
|
2004
|
81 |
4 |
p. 343-346
4 p.
|
artikel
|
| 7 |
Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase
|
Stanley, Christine M
|
|
2004
|
81 |
4 |
p. 300-312
13 p.
|
artikel
|
| 8 |
IFC - Ed. Board
|
|
|
2004
|
81 |
4 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy
|
Relton, Caroline L
|
|
2004
|
81 |
4 |
p. 273-281
9 p.
|
artikel
|
| 10 |
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
|
Yang, Xue
|
|
2004
|
81 |
4 |
p. 335-342
8 p.
|
artikel
|
| 11 |
NADPH oxidase activity of neutrophil specific granules: requirements for cytosolic components and evidence of assembly during cell activation
|
Ambruso, Daniel R
|
|
2004
|
81 |
4 |
p. 313-321
9 p.
|
artikel
|
| 12 |
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases
|
Poll-The, Bwee Tien
|
|
2004
|
81 |
4 |
p. 295-299
5 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2004
|
81 |
4 |
p. i-ii
nvt p.
|
artikel
|
| 14 |
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family
|
Bekri, S
|
|
2004
|
81 |
4 |
p. 347-351
5 p.
|
artikel
|
| 15 |
The strange case of G972R IRS-1 variant and diabetes. Do type 1 and type 2 diabetes share common genes?
|
Federici, Massimo
|
|
2004
|
81 |
4 |
p. 261-262
2 p.
|
artikel
|
| 16 |
Volume Contents
|
|
|
2004
|
81 |
4 |
p. III-VIII
nvt p.
|
artikel
|
| 17 |
Volume Index
|
|
|
2004
|
81 |
4 |
p. 355-356
2 p.
|
artikel
|
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