nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
ARX mutation c.428–451dup (24bp) in a Brazilian family with X-linked mental retardation
|
Gestinari-Duarte, Raquel de Souza |
|
2006 |
49 |
3 |
p. 269-275 7 p. |
artikel |
2 |
A 2-year-old baby with Downs syndrome, cryptorchidism and testicular tumour
|
Dada, Rima |
|
2006 |
49 |
3 |
p. 265-268 4 p. |
artikel |
3 |
CV2 Editorial Board redaction
|
|
|
2006 |
49 |
3 |
p. CO2- 1 p. |
artikel |
4 |
First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization
|
Gamerdinger, Ulrike |
|
2006 |
49 |
3 |
p. 225-234 10 p. |
artikel |
5 |
Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium
|
Kanemoto, Nobuko |
|
2006 |
49 |
3 |
p. 247-253 7 p. |
artikel |
6 |
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region
|
Chaabouni, M. |
|
2006 |
49 |
3 |
p. 255-263 9 p. |
artikel |
7 |
[No title]
|
Devriendt, Koenraad |
|
2006 |
49 |
3 |
p. 277- 1 p. |
artikel |
8 |
The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey
|
Karaman, Birsen |
|
2006 |
49 |
3 |
p. 207-214 8 p. |
artikel |
9 |
Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype
|
Piovani, Giovanna |
|
2006 |
49 |
3 |
p. 215-223 9 p. |
artikel |
10 |
Using BAC clones to characterize unbalanced chromosome abnormalities in interphase cells
|
Plastira, Konstantina |
|
2006 |
49 |
3 |
p. 235-246 12 p. |
artikel |