| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Novel Single-Base Substitution (380C>T) That Activates a 5-Base Downstream Cryptic Splice-Acceptor Site within Exon 5 in Almost All Transcripts in the Human Mitochondrial Acetoacetyl-CoA Thiolase Gene
|
Nakamura, Kozue
|
|
2001
|
72 |
2 |
p. 115-121
7 p.
|
artikel
|
| 2 |
Association between Total Serum Calcium and the A986S Polymorphism of the Calcium-Sensing Receptor Gene
|
Cole, David E.C.
|
|
2001
|
72 |
2 |
p. 168-174
7 p.
|
artikel
|
| 3 |
Dexamethasone Alters TNF-α Expression in Retinopathy
|
Yossuck, Panitan
|
|
2001
|
72 |
2 |
p. 164-167
4 p.
|
artikel
|
| 4 |
Genes Responsible for Nonspecific Mental Retardation
|
Castellvı́-Bel, S.
|
|
2001
|
72 |
2 |
p. 104-108
5 p.
|
artikel
|
| 5 |
Genetic Factors Related to Racial Variation in Plasma Levels of Insulin-Like Growth Factor-1: Implications for Premenopausal Breast Cancer Risk
|
Jernström, Helena
|
|
2001
|
72 |
2 |
p. 144-154
11 p.
|
artikel
|
| 6 |
Glycoconjugate Metabolism in a Cystic Fibrosis Knockout Mouse Model
|
Mailleau, Christiane
|
|
2001
|
72 |
2 |
p. 122-131
10 p.
|
artikel
|
| 7 |
In Vitro Expression of 34 Naturally Occurring Mutant Variants of Phenylalanine Hydroxylase: Correlation with Metabolic Phenotypes and Susceptibility toward Protein Aggregation
|
Gjetting, Torben
|
|
2001
|
72 |
2 |
p. 132-143
12 p.
|
artikel
|
| 8 |
Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut − Methylmalonyl-CoA Deficiency
|
Benoist, Jean-François
|
|
2001
|
72 |
2 |
p. 181-184
4 p.
|
artikel
|
| 9 |
Molecular Genetics of Glycogen-Storage Disease Type 1a in Chinese Patients of Taiwan
|
Wong, Lee-Jun C.
|
|
2001
|
72 |
2 |
p. 175-180
6 p.
|
artikel
|
| 10 |
The Clinical, Morphologic, and Molecular Changes in the Ileum Associated with Early Postnatal Dexamethasone Administration: From the Baby's Bowel to the Researcher's Bench
|
Gordon, Phillip V.
|
|
2001
|
72 |
2 |
p. 91-103
13 p.
|
artikel
|
| 11 |
The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients
|
Fukao, Toshiyuki
|
|
2001
|
72 |
2 |
p. 109-114
6 p.
|
artikel
|
| 12 |
Thyroid Carcinoma Is Characterized by Genomic Instability: Evidence from p53 Mutations
|
Shahedian, Behnaz
|
|
2001
|
72 |
2 |
p. 155-163
9 p.
|
artikel
|
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