| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene
|
Shalitin, S
|
|
2002
|
76 |
2 |
p. 157-161
5 p.
|
artikel
|
| 2 |
Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements
|
Rocher, Christophe
|
|
2002
|
76 |
2 |
p. 123-132
10 p.
|
artikel
|
| 3 |
Expression of the liver form of arginase in erythrocytes
|
Kim, Phillip S
|
|
2002
|
76 |
2 |
p. 100-110
11 p.
|
artikel
|
| 4 |
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene
|
Bisanzi, S
|
|
2002
|
76 |
2 |
p. 137-144
8 p.
|
artikel
|
| 5 |
Identification and cloning of a new protein that binds the 3′ untranslated region of α-striated tropomyosin
|
Fang, Hai-Lin
|
|
2002
|
76 |
2 |
p. 111-122
12 p.
|
artikel
|
| 6 |
Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefèvre syndrome
|
Hart, P.S
|
|
2002
|
76 |
2 |
p. 145-147
3 p.
|
artikel
|
| 7 |
No evidence for involvement of the calpain-10 gene `high-risk' haplotype combination for non-insulin-dependent diabetes mellitus in early onset obesity
|
Hinney, Anke
|
|
2002
|
76 |
2 |
p. 152-156
5 p.
|
artikel
|
| 8 |
Pilot study of mass screening for Wilson's disease in Korea
|
Hahn, Si Houn
|
|
2002
|
76 |
2 |
p. 133-136
4 p.
|
artikel
|
| 9 |
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans
|
Ozisik, Gokhan
|
|
2002
|
76 |
2 |
p. 85-91
7 p.
|
artikel
|
| 10 |
The role of the HNF4 α enhancer in type 2 diabetes
|
Mitchell, Simon M.S
|
|
2002
|
76 |
2 |
p. 148-151
4 p.
|
artikel
|
| 11 |
Upregulation of smooth muscle cell collagen production by homocysteine—insight into the pathogenesis of homocystinuria
|
Majors, Alana K.
|
|
2002
|
76 |
2 |
p. 92-99
8 p.
|
artikel
|
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