| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance
|
Walsh, Diana M.
|
|
2013
|
56 |
1 |
p. 39-42
4 p.
|
artikel
|
| 2 |
Aetiology of childhood hearing loss in Cameroon (sub-Saharan Africa)
|
Wonkam, Ambroise
|
|
2013
|
56 |
1 |
p. 20-25
6 p.
|
artikel
|
| 3 |
A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family
|
Wakil, Salma M.
|
|
2013
|
56 |
1 |
p. 43-45
3 p.
|
artikel
|
| 4 |
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature
|
Stark, Zornitza
|
|
2013
|
56 |
1 |
p. 36-38
3 p.
|
artikel
|
| 5 |
Autosomal insertional translocation mimicking an X-linked mode of inheritance
|
Thierry, Gaelle
|
|
2013
|
56 |
1 |
p. 46-49
4 p.
|
artikel
|
| 6 |
Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis
|
Takenouchi, Toshiki
|
|
2013
|
56 |
1 |
p. 50-53
4 p.
|
artikel
|
| 7 |
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility
|
Mercer, Catherine L.
|
|
2013
|
56 |
1 |
p. 1-6
6 p.
|
artikel
|
| 8 |
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
|
Demeer, Bénédicte
|
|
2013
|
56 |
1 |
p. 26-31
6 p.
|
artikel
|
| 9 |
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy
|
Trabelsi, Mediha
|
|
2013
|
56 |
1 |
p. 13-19
7 p.
|
artikel
|
| 10 |
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia
|
Mégarbané, André
|
|
2013
|
56 |
1 |
p. 32-35
4 p.
|
artikel
|
| 11 |
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism
|
Rocca, Maria Santa
|
|
2013
|
56 |
1 |
p. 62-65
4 p.
|
artikel
|
| 12 |
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
|
De Rocco, Daniela
|
|
2013
|
56 |
1 |
p. 7-12
6 p.
|
artikel
|
| 13 |
5p13 microduplication syndrome: A new case and better clinical definition of the syndrome
|
Novara, Francesca
|
|
2013
|
56 |
1 |
p. 54-58
5 p.
|
artikel
|
| 14 |
17q21.31 Microdeletion associated with infantile spasms
|
Wray, Carter D.
|
|
2013
|
56 |
1 |
p. 59-61
3 p.
|
artikel
|
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