nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('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. |
artikel |
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. |
artikel |
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. |
artikel |
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. |
artikel |
5 |
CV2 Editorial Board redaction
|
|
|
2008 |
51 |
1 |
p. IFC- 1 p. |
artikel |
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. |
artikel |
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. |
artikel |
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. |
artikel |
9 |
Genotypes and phenotypes of Joubert syndrome and related disorders
|
Valente, Enza Maria |
|
2008 |
51 |
1 |
p. 1-23 23 p. |
artikel |
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. |
artikel |
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. |
artikel |