| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review
|
Courtens, Winnie
|
|
2006
|
49 |
5 |
p. 402-413
12 p.
|
artikel
|
| 2 |
Chiari type I malformation in four unrelated patients affected with Fabry disease
|
Germain, Dominique P.
|
|
2006
|
49 |
5 |
p. 419-425
7 p.
|
artikel
|
| 3 |
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
|
Horsnell, Katherine
|
|
2006
|
49 |
5 |
p. 396-401
6 p.
|
artikel
|
| 4 |
Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature
|
Feenstra, I.
|
|
2006
|
49 |
5 |
p. 384-395
12 p.
|
artikel
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2006
|
49 |
5 |
p. CO2-
1 p.
|
artikel
|
| 6 |
(Epi)mutations in 11p15 significantly contribute to Silver–Russell syndrome: but are they generally involved in growth retardation?
|
Schönherr, N.
|
|
2006
|
49 |
5 |
p. 414-418
5 p.
|
artikel
|
| 7 |
Erratum to “Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance” [Ann. Genet. 47 (2004) 225–234]
|
Bader, D.
|
|
2006
|
49 |
5 |
p. 444-
1 p.
|
artikel
|
| 8 |
Human laterality disorders
|
Peeters, Hilde
|
|
2006
|
49 |
5 |
p. 349-362
14 p.
|
artikel
|
| 9 |
Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy
|
Limongelli, Giuseppe
|
|
2006
|
49 |
5 |
p. 426-430
5 p.
|
artikel
|
| 10 |
Partial trisomy 17p12pter, associated with pre and postnatal growth retardation, dysmorphic facial and digital features, developmental delay, and signs of HMSN1 in early childhood
|
Vogt, J.
|
|
2006
|
49 |
5 |
p. 439-443
5 p.
|
artikel
|
| 11 |
The natural history of Cri du Chat Syndrome. A report from the Italian Register
|
Mainardi, Paola Cerruti
|
|
2006
|
49 |
5 |
p. 363-383
21 p.
|
artikel
|
| 12 |
Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
|
Karmous-Benailly, Houda
|
|
2006
|
49 |
5 |
p. 431-438
8 p.
|
artikel
|
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