nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Ataxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and Radiosensitivity
|
Becker-Catania, Sara G. |
|
2000 |
70 |
2 |
p. 122-133 12 p. |
artikel |
2 |
A Variable Myopathy Associated with Heterozygosity for the R503C Mutation in the Carnitine Palmitoyltransferase II Gene
|
Vladutiu, Georgirene D. |
|
2000 |
70 |
2 |
p. 134-141 8 p. |
artikel |
3 |
Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia
|
Toone, Jennifer R. |
|
2000 |
70 |
2 |
p. 116-121 6 p. |
artikel |
4 |
Fragile Sites and Minisatellite Repeat Instability
|
Handt, Oliva |
|
2000 |
70 |
2 |
p. 99-105 7 p. |
artikel |
5 |
Functional Analyses of Amino Acid Substitutions Arg883Ser and Asp905Tyr of Protein Phosphatase-1 G-subunit
|
Permana, Paskasari A. |
|
2000 |
70 |
2 |
p. 151-158 8 p. |
artikel |
6 |
p53 and IGFBP-3: Apoptosis and Cancer Protection
|
Grimberg, Adda |
|
2000 |
70 |
2 |
p. 85-98 14 p. |
artikel |
7 |
Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
|
Sohocki, Melanie M. |
|
2000 |
70 |
2 |
p. 142-150 9 p. |
artikel |
8 |
Reconstitution of TCP80/NF90 Translation Inhibition Activity in Insect Cells
|
Xu, You-Hai |
|
2000 |
70 |
2 |
p. 106-115 10 p. |
artikel |
9 |
The Peroxisome Proliferator-Activated Receptor γ2 Pro12Ala Mutation Is Associated with Early Onset Extreme Obesity and Reduced Fasting Glucose
|
Li, Wei-Dong |
|
2000 |
70 |
2 |
p. 159-161 3 p. |
artikel |