| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency
|
Barcia, G.
|
|
2013
|
56 |
12 |
p. 683-685
3 p.
|
artikel
|
| 2 |
A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9
|
Xiao, Bing
|
|
2013
|
56 |
12 |
p. 695-698
4 p.
|
artikel
|
| 3 |
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): Case report and literature review
|
Chouery, Eliane
|
|
2013
|
56 |
12 |
p. 674-677
4 p.
|
artikel
|
| 4 |
De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability
|
Almuqbil, Mohammed
|
|
2013
|
56 |
12 |
p. 686-688
3 p.
|
artikel
|
| 5 |
Involvement of germline DDX1–MYCN duplication in inherited nephroblastoma
|
Fievet, Alice
|
|
2013
|
56 |
12 |
p. 643-647
5 p.
|
artikel
|
| 6 |
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
|
Czeschik, Johanna Christina
|
|
2013
|
56 |
12 |
p. 689-694
6 p.
|
artikel
|
| 7 |
Mutation in CYP27A1 identified in family with coronary artery disease
|
InanlooRahatloo, Kolsoum
|
|
2013
|
56 |
12 |
p. 655-660
6 p.
|
artikel
|
| 8 |
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition
|
Brownstein, Catherine A.
|
|
2013
|
56 |
12 |
p. 678-682
5 p.
|
artikel
|
| 9 |
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform
|
Norling, Ameli
|
|
2013
|
56 |
12 |
p. 661-668
8 p.
|
artikel
|
| 10 |
Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases
|
Merello, Elisa
|
|
2013
|
56 |
12 |
p. 648-654
7 p.
|
artikel
|
| 11 |
Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders
|
Reuter, Miriam S.
|
|
2013
|
56 |
12 |
p. 669-673
5 p.
|
artikel
|
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