| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AcroM fluorescent in situ hybridization analyses of marker chromosomes
|
Langer, Sabine
|
|
2001
|
109 |
2 |
p. 152-158
|
artikel
|
| 2 |
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits
|
Angius, Andrea
|
|
2001
|
109 |
2 |
p. 198-209
|
artikel
|
| 3 |
A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease
|
Noack, Deborah
|
|
2001
|
109 |
2 |
p. 234-238
|
artikel
|
| 4 |
Combined segregation-linkage analysis of plasma thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gene polymorphisms
|
Trégouet, D.-A.
|
|
2001
|
109 |
2 |
p. 191-197
|
artikel
|
| 5 |
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica
|
Küry, Sébastien
|
|
2001
|
109 |
2 |
p. 178-185
|
artikel
|
| 6 |
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation
|
Willett-Brozick, Joan E.
|
|
2001
|
109 |
2 |
p. 216-223
|
artikel
|
| 7 |
Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene
|
Yan, Bo
|
|
2001
|
109 |
2 |
p. 186-190
|
artikel
|
| 8 |
Large-scale molecular screening for galactosemia alleles in a pan-ethnic population
|
Suzuki, Makoto
|
|
2001
|
109 |
2 |
p. 210-215
|
artikel
|
| 9 |
Linkage and association to candidate regions in Swedish atopic dermatitis families
|
Söderhäll, Cilla
|
|
2001
|
109 |
2 |
p. 129-135
|
artikel
|
| 10 |
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
|
Paschke, Eduard
|
|
2001
|
109 |
2 |
p. 159-166
|
artikel
|
| 11 |
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases
|
Smith, Wendy M.
|
|
2001
|
109 |
2 |
p. 146-151
|
artikel
|
| 12 |
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer
|
Gao, Qing
|
|
2001
|
109 |
2 |
p. 239-240
|
artikel
|
| 13 |
Recombination in the pseudoautosomal region in a 47,XYY male
|
Martin, Renée H.
|
|
2001
|
109 |
2 |
p. 143-145
|
artikel
|
| 14 |
The Basques according to polymorphic Alu insertions
|
de Pancorbo, M.
|
|
2001
|
109 |
2 |
p. 224-233
|
artikel
|
| 15 |
The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans
|
Saleem, Quasar
|
|
2001
|
109 |
2 |
p. 136-142
|
artikel
|
| 16 |
The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers
|
Tapia-Páez, I.
|
|
2001
|
109 |
2 |
p. 167-177
|
artikel
|
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