| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature
|
Bartholdi, Deborah
|
|
2008
|
51 |
2 |
p. 113-123
11 p.
|
artikel
|
| 2 |
Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant
|
Bonaglia, Maria Clara
|
|
2008
|
51 |
2 |
p. 148-155
8 p.
|
artikel
|
| 3 |
CV2 Editorial Board redaction
|
|
|
2008
|
51 |
2 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array
|
Andrieux, Joris
|
|
2008
|
51 |
2 |
p. 172-177
6 p.
|
artikel
|
| 5 |
Holoprosencephaly–Polydactyly syndrome: In search of an etiology
|
Cordero, Dwight R.
|
|
2008
|
51 |
2 |
p. 106-112
7 p.
|
artikel
|
| 6 |
Mesiodens
|
Van Buggenhout, Griet
|
|
2008
|
51 |
2 |
p. 178-181
4 p.
|
artikel
|
| 7 |
Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature
|
Jezela-Stanek, A.
|
|
2008
|
51 |
2 |
p. 124-140
17 p.
|
artikel
|
| 8 |
Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p
|
Gawlik-Kuklinska, Katarzyna
|
|
2008
|
51 |
2 |
p. 165-171
7 p.
|
artikel
|
| 9 |
Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements
|
Stegmann, A.P.A.
|
|
2008
|
51 |
2 |
p. 93-105
13 p.
|
artikel
|
| 10 |
Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: Evidence from 261 cases in Israel, 1976–1999
|
Chodick, Gabriel
|
|
2008
|
51 |
2 |
p. 141-147
7 p.
|
artikel
|
| 11 |
TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7
|
Schluth-Bolard, Caroline
|
|
2008
|
51 |
2 |
p. 156-164
9 p.
|
artikel
|
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