| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
|
Jonard, Laurence
|
|
2008
|
51 |
1 |
p. 35-43
9 p.
|
article
|
| 2 |
A 580kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation
|
Rooryck, Caroline
|
|
2008
|
51 |
1 |
p. 74-80
7 p.
|
article
|
| 3 |
A 6.9Mb 1qter deletion/4.4Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis
|
Andrieux, Joris
|
|
2008
|
51 |
1 |
p. 87-91
5 p.
|
article
|
| 4 |
A patient with an interstitial duplication of chromosome 5p11–p13.3 further confirming a critical region for 5p duplication syndrome
|
Loscalzo, Melissa L.
|
|
2008
|
51 |
1 |
p. 54-60
7 p.
|
article
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2008
|
51 |
1 |
p. IFC-
1 p.
|
article
|
| 6 |
Distal del(4) (q33) syndrome: Detailed clinical presentation and molecular description with array-CGH
|
Kitsiou-Tzeli, Sofia
|
|
2008
|
51 |
1 |
p. 61-67
7 p.
|
article
|
| 7 |
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
|
Kroes, Hester Y.
|
|
2008
|
51 |
1 |
p. 24-34
11 p.
|
article
|
| 8 |
Fine mapping of a de novo interstitial 10q22–q23 duplication in a patient with congenital heart disease and microcephaly
|
Erdogan, F.
|
|
2008
|
51 |
1 |
p. 81-86
6 p.
|
article
|
| 9 |
Genotypes and phenotypes of Joubert syndrome and related disorders
|
Valente, Enza Maria
|
|
2008
|
51 |
1 |
p. 1-23
23 p.
|
article
|
| 10 |
Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
|
Vollmar, Tobias
|
|
2008
|
51 |
1 |
p. 44-53
10 p.
|
article
|
| 11 |
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes
|
Mochel, Fanny
|
|
2008
|
51 |
1 |
p. 68-73
6 p.
|
article
|
Journal description