| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
|
Addis, Maria
|
|
2007
|
50 |
1 |
p. 79-84
6 p.
|
artikel
|
| 2 |
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion
|
Kitsiou-Tzeli, Sofia
|
|
2007
|
50 |
1 |
p. 73-78
6 p.
|
artikel
|
| 3 |
CV2 Editorial Board redaction
|
|
|
2007
|
50 |
1 |
p. CO2-
1 p.
|
artikel
|
| 4 |
Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes
|
Camprubí, Cristina
|
|
2007
|
50 |
1 |
p. 11-20
10 p.
|
artikel
|
| 5 |
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
|
Zenker, Martin
|
|
2007
|
50 |
1 |
p. 43-47
5 p.
|
artikel
|
| 6 |
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams–Beuren syndrome regions
|
Kirchhoff, Maria
|
|
2007
|
50 |
1 |
p. 33-42
10 p.
|
artikel
|
| 7 |
Phenotypic variability of a 4q34→qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother
|
Bendavid, Claude
|
|
2007
|
50 |
1 |
p. 66-72
7 p.
|
artikel
|
| 8 |
Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?
|
Mosca, Anne-Laure
|
|
2007
|
50 |
1 |
p. 48-53
6 p.
|
artikel
|
| 9 |
Pure familial 6q21q22.1 duplication in two generations
|
Pazooki, Mohammad
|
|
2007
|
50 |
1 |
p. 60-65
6 p.
|
artikel
|
| 10 |
2q24–q31 Deletion: Report of a case and review of the literature
|
Pescucci, C.
|
|
2007
|
50 |
1 |
p. 21-32
12 p.
|
artikel
|
| 11 |
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: A new case of Casamassima–Morton–Nance syndrome?
|
Thauvin-Robinet, Christel
|
|
2007
|
50 |
1 |
p. 85-91
7 p.
|
artikel
|
| 12 |
Subtelomeric trisomy 21q: A new benign chromosomal variant
|
Bonaglia, Maria Clara
|
|
2007
|
50 |
1 |
p. 54-59
6 p.
|
artikel
|
| 13 |
Tall stature and duplication of the insulin-like growth factor I receptor gene
|
Kant, S.G.
|
|
2007
|
50 |
1 |
p. 1-10
10 p.
|
artikel
|
Tijdschrift beschrijving