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 |