| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A clinical molecular genetic service for United Kingdom families with choroideraemia
|
Ramsden, Simon C.
|
|
2013
|
56 |
8 |
p. 432-438
7 p.
|
artikel
|
| 2 |
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature
|
van Trier, Dorothée C.
|
|
2013
|
56 |
8 |
p. 426-431
6 p.
|
artikel
|
| 3 |
Clinical delineation of a patient with trisomy 12q23q24
|
Bouman, Arjan
|
|
2013
|
56 |
8 |
p. 463-469
7 p.
|
artikel
|
| 4 |
CNR1 variation is associated with the age at onset in Huntington disease
|
Kloster, Eugen
|
|
2013
|
56 |
8 |
p. 416-419
4 p.
|
artikel
|
| 5 |
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations
|
Migliore, Chiara
|
|
2013
|
56 |
8 |
p. 404-410
7 p.
|
artikel
|
| 6 |
Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism
|
Wang, Peter
|
|
2013
|
56 |
8 |
p. 420-425
6 p.
|
artikel
|
| 7 |
Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family
|
Cherkaoui Jaouad, I.
|
|
2013
|
56 |
8 |
p. 442-444
3 p.
|
artikel
|
| 8 |
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations
|
Ramos, Mónica
|
|
2013
|
56 |
8 |
p. 411-415
5 p.
|
artikel
|
| 9 |
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
|
Bartels, Iris
|
|
2013
|
56 |
8 |
p. 458-462
5 p.
|
artikel
|
| 10 |
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5
|
Kannu, P.
|
|
2013
|
56 |
8 |
p. 452-457
6 p.
|
artikel
|
| 11 |
Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion
|
Akcay, Arzu
|
|
2013
|
56 |
8 |
p. 445-451
7 p.
|
artikel
|
| 12 |
The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)
|
van den Bree, Marianne B.M.
|
|
2013
|
56 |
8 |
p. 439-441
3 p.
|
artikel
|
| 13 |
The use of medical care and the prevalence of serious illness in an adult Prader–Willi syndrome cohort
|
Sinnema, Margje
|
|
2013
|
56 |
8 |
p. 397-403
7 p.
|
artikel
|
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