| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) karyotype
|
Dundar, Munis
|
|
2001
|
44 |
1 |
p. 5-8
4 p.
|
artikel
|
| 2 |
Complex chromosome abnormality mimicking t(8;21)in an acute myeloblastic leukemia
|
Busson-Le Coniat, Maryvonne
|
|
2001
|
44 |
1 |
p. 9-11
3 p.
|
artikel
|
| 3 |
Joint effect of G1691A factor V point mutation and factor VII Arg/Gln353 gene polymorphism on the risk of premature coronary artery disease
|
Petrovič, Daniel
|
|
2001
|
44 |
1 |
p. 33-36
4 p.
|
artikel
|
| 4 |
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
|
Gilbert, Brigitte
|
|
2001
|
44 |
1 |
p. 25-32
8 p.
|
artikel
|
| 5 |
Microdissection and reverse painting reveals a microdeletion 6(q26qter) in a de novo r(6) chromosome
|
Birnbacher, Robert
|
|
2001
|
44 |
1 |
p. 13-18
6 p.
|
artikel
|
| 6 |
Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells
|
Reddy, Kavita S.
|
|
2001
|
44 |
1 |
p. 37-40
4 p.
|
artikel
|
| 7 |
On the symmetry of limb deficiencies among childrenwith multiple congenital anomalies
|
Stoll, Claude
|
|
2001
|
44 |
1 |
p. 19-24
6 p.
|
artikel
|
| 8 |
Origin of uniparental disomy 6: presentation of a new case and review on the literature
|
Eggermann, Thomas
|
|
2001
|
44 |
1 |
p. 41-45
5 p.
|
artikel
|
| 9 |
Prader–Willi syndrome and polygonosomal abnormalities in males:about a Prader–Willi/47,XYY patient
|
Odent, Sylvie
|
|
2001
|
44 |
1 |
p. 1-3
3 p.
|
artikel
|
| 10 |
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)
|
Van Buggenhout, G.J.C.M.
|
|
2001
|
44 |
1 |
p. 47-55
9 p.
|
artikel
|
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