| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines
|
Gimelli, G.
|
|
2007
|
50 |
4 |
p. 264-273
10 p.
|
artikel
|
| 2 |
A 2.6Mb deletion of 6q24.3–25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears
|
Caselli, R.
|
|
2007
|
50 |
4 |
p. 315-321
7 p.
|
artikel
|
| 3 |
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
|
Kirchhoff, Maria
|
|
2007
|
50 |
4 |
p. 256-263
8 p.
|
artikel
|
| 4 |
Associated malformations in patients with anorectal anomalies
|
Stoll, C.
|
|
2007
|
50 |
4 |
p. 281-290
10 p.
|
artikel
|
| 5 |
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
|
Lonardo, Fortunato
|
|
2007
|
50 |
4 |
p. 301-308
8 p.
|
artikel
|
| 6 |
CV2 Editorial Board redaction
|
|
|
2007
|
50 |
4 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: Cytogenetic and molecular analysis
|
Velissariou, V.
|
|
2007
|
50 |
4 |
p. 291-300
10 p.
|
artikel
|
| 8 |
Periapical cemental dysplasia is common in women with NF1
|
Visnapuu, Vivian
|
|
2007
|
50 |
4 |
p. 274-280
7 p.
|
artikel
|
| 9 |
Structural autosomal imbalance and oesophageal defects: Addendum to the article by Felix et al. (2007)
|
Lurie, Iosif W.
|
|
2007
|
50 |
4 |
p. 322-325
4 p.
|
artikel
|
| 10 |
Transmitted cytogenetic abnormalities in patients with mental retardation: Pathogenic or normal variants?
|
Bisgaard, Anne-Marie
|
|
2007
|
50 |
4 |
p. 243-255
13 p.
|
artikel
|
| 11 |
Uncombable hair syndrome: A clinical report
|
Rieubland, Claudine
|
|
2007
|
50 |
4 |
p. 309-314
6 p.
|
artikel
|
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