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 |