| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new case of interstitial 6q16.2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity
|
Varela, Monica C.
|
|
2006
|
49 |
4 |
p. 298-305
8 p.
|
artikel
|
| 2 |
CV2 Editorial Board redaction
|
|
|
2006
|
49 |
4 |
p. CO2-
1 p.
|
artikel
|
| 3 |
Deleterious mutations in exon 1 of MECP2 in Rett syndrome
|
Quenard, Aline
|
|
2006
|
49 |
4 |
p. 313-322
10 p.
|
artikel
|
| 4 |
Double aneuploidy (48,XXY,+21): molecular analysis demonstrates a maternal origin
|
Glass, Ian A.
|
|
2006
|
49 |
4 |
p. 346-348
3 p.
|
artikel
|
| 5 |
European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities
|
Feenstra, I.
|
|
2006
|
49 |
4 |
p. 279-291
13 p.
|
artikel
|
| 6 |
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)
|
Schwarzbraun, Thomas
|
|
2006
|
49 |
4 |
p. 338-345
8 p.
|
artikel
|
| 7 |
Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality
|
El-Harith, El-Harith A.
|
|
2006
|
49 |
4 |
p. 323-330
8 p.
|
artikel
|
| 8 |
Monosomy 8 rescue gave cells with a normal karyotype in a mildly affected man with 46,XY,r(8) mosaicism
|
Gradek, Gyri Aasland
|
|
2006
|
49 |
4 |
p. 292-297
6 p.
|
artikel
|
| 9 |
Prenatal identification of a marker chromosome 16 by chromosome microdissection and reverse FISH
|
de Pater, Joke
|
|
2006
|
49 |
4 |
p. 306-312
7 p.
|
artikel
|
| 10 |
Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report
|
Velissariou, V.
|
|
2006
|
49 |
4 |
p. 331-337
7 p.
|
artikel
|
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