| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2
|
van der Zwaag, Paul A.
|
|
2010
|
53 |
1 |
p. 45-49
5 p.
|
artikel
|
| 2 |
Classification of Osteogenesis Imperfecta revisited
|
Van Dijk, F.S.
|
|
2010
|
53 |
1 |
p. 1-5
5 p.
|
artikel
|
| 3 |
De novo deletion of chromosome 11q13.4–q14.3 in a boy with microcephaly, ptosis and developmental delay
|
Wincent, Josephine
|
|
2010
|
53 |
1 |
p. 50-53
4 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2010
|
53 |
1 |
p. ii-
1 p.
|
artikel
|
| 5 |
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
|
Shaw-Smith, Charles
|
|
2010
|
53 |
1 |
p. 6-13
8 p.
|
artikel
|
| 6 |
MBD3 mutations are not responsible for ICR1 hypomethylation in Silver–Russell syndrome
|
Bachmann, Nadine
|
|
2010
|
53 |
1 |
p. 23-24
2 p.
|
artikel
|
| 7 |
Monozygotic twins discordant for vascular malformations and dysregulated growth
|
Oduber, Charlène E.U.
|
|
2010
|
53 |
1 |
p. 14-18
5 p.
|
artikel
|
| 8 |
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn
|
Martinovici, Dana
|
|
2010
|
53 |
1 |
p. 25-28
4 p.
|
artikel
|
| 9 |
Oculo-dento-digital dysplasia: Lack of genotype–phenotype correlation for GJA1 mutations and usefulness of neuro-imaging
|
Alao, M.J.
|
|
2010
|
53 |
1 |
p. 19-22
4 p.
|
artikel
|
| 10 |
Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: New cases of “polyvalvular heart disease syndrome” or new association?
|
Edouard, Thomas
|
|
2010
|
53 |
1 |
p. 29-34
6 p.
|
artikel
|
| 11 |
Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: Three case reports
|
Voermans, N.C.
|
|
2010
|
53 |
1 |
p. 35-39
5 p.
|
artikel
|
| 12 |
The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies
|
Gerkes, Erica H.
|
|
2010
|
53 |
1 |
p. 40-44
5 p.
|
artikel
|
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