| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Anticipation in familial Hodgkin's lymphoma
|
Lynch, Henry T.
|
|
2000
|
107 |
3 |
p. 290-293
|
artikel
|
| 2 |
Association of ACE I/D polymorphism with cardiovascular risk factors
|
Uemura, K.
|
|
2000
|
107 |
3 |
p. 239-242
|
artikel
|
| 3 |
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome
|
Tok Çelebi, Julide
|
|
2000
|
107 |
3 |
p. 234-238
|
artikel
|
| 4 |
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
|
Miura, Yuichi
|
|
2000
|
107 |
3 |
p. 205-209
|
artikel
|
| 5 |
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)
|
Tonelli, Roberto
|
|
2000
|
107 |
3 |
p. 225-233
|
artikel
|
| 6 |
Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments
|
Booms, P.
|
|
2000
|
107 |
3 |
p. 216-224
|
artikel
|
| 7 |
Fusion of 9 beta-satellite and telomere (TTAGGG)n sequences results in a jumping translocation
|
Reddy, K. S.
|
|
2000
|
107 |
3 |
p. 268-275
|
artikel
|
| 8 |
Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels
|
Razzaghi, H.
|
|
2000
|
107 |
3 |
p. 257-267
|
artikel
|
| 9 |
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer
|
Krämer, Franziska
|
|
2000
|
107 |
3 |
p. 249-256
|
artikel
|
| 10 |
Linkage analysis with candidate genes: the Taiwan young-onset hypertension genetic study
|
Pan, Wen-Harn
|
|
2000
|
107 |
3 |
p. 210-215
|
artikel
|
| 11 |
Mutation analysis in glycogen storage disease type 1 non-a
|
Janecke, Andreas R.
|
|
2000
|
107 |
3 |
p. 285-289
|
artikel
|
| 12 |
Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene
|
Whatley, Sharon D.
|
|
2000
|
107 |
3 |
p. 243-248
|
artikel
|
| 13 |
The identical 5′ splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect
|
Spirio, Lisa
|
|
2000
|
107 |
3 |
p. 294
|
artikel
|
| 14 |
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
|
Gerber, Sylvie
|
|
2000
|
107 |
3 |
p. 276-284
|
artikel
|
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