| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome
|
Sorasio, L.
|
|
2006
|
49 |
6 |
p. 520-522
3 p.
|
artikel
|
| 2 |
A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome
|
Colombani, Marina
|
|
2006
|
49 |
6 |
p. 466-471
6 p.
|
artikel
|
| 3 |
Are the recommendations on the prevention of neural tube defects working?
|
Stoll, C.
|
|
2006
|
49 |
6 |
p. 461-465
5 p.
|
artikel
|
| 4 |
Author index
|
|
|
2006
|
49 |
6 |
p. 523-525
3 p.
|
artikel
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2006
|
49 |
6 |
p. CO2-
1 p.
|
artikel
|
| 6 |
Detection of a deletion of exons 8–16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay
|
Boyes, L.
|
|
2006
|
49 |
6 |
p. 472-480
9 p.
|
artikel
|
| 7 |
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
|
López-Exposito, I.
|
|
2006
|
49 |
6 |
p. 511-515
5 p.
|
artikel
|
| 8 |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype–genotype correlation
|
Mattit, Hanadi
|
|
2006
|
49 |
6 |
p. 481-486
6 p.
|
artikel
|
| 9 |
Identification of a novel mutation in the SRY gene in a 46, XY female patient
|
Salehi, L. Baghernajad
|
|
2006
|
49 |
6 |
p. 494-498
5 p.
|
artikel
|
| 10 |
Keyword index
|
|
|
2006
|
49 |
6 |
p. 526-534
9 p.
|
artikel
|
| 11 |
24 Mb deletion of 6q22.1→q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism
|
Chen, C.-P.
|
|
2006
|
49 |
6 |
p. 516-519
4 p.
|
artikel
|
| 12 |
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
|
D'Angelo, Carla S.
|
|
2006
|
49 |
6 |
p. 451-460
10 p.
|
artikel
|
| 13 |
Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion
|
Chaabouni, M.
|
|
2006
|
49 |
6 |
p. 487-493
7 p.
|
artikel
|
| 14 |
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations
|
Ciara, E.
|
|
2006
|
49 |
6 |
p. 499-504
6 p.
|
artikel
|
| 15 |
Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH
|
Roos, A.
|
|
2006
|
49 |
6 |
p. 505-510
6 p.
|
artikel
|
| 16 |
Translational readthrough induction of pathogenic nonsense mutations
|
Kellermayer, Richard
|
|
2006
|
49 |
6 |
p. 445-450
6 p.
|
artikel
|
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