| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A familial inverted duplication 2q33–q34 identified and delineated by multiple cytogenetic techniques
|
Eussen, Bert H.
|
|
2007
|
50 |
2 |
p. 112-119
8 p.
|
artikel
|
| 2 |
A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features
|
Hoffer, M.J.V.
|
|
2007
|
50 |
2 |
p. 149-154
6 p.
|
artikel
|
| 3 |
An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype
|
Bartels, Iris
|
|
2007
|
50 |
2 |
p. 133-138
6 p.
|
artikel
|
| 4 |
Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion
|
Martinez-Glez, Victor
|
|
2007
|
50 |
2 |
p. 120-127
8 p.
|
artikel
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2007
|
50 |
2 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?
|
Ørstavik, Karen Helene
|
|
2007
|
50 |
2 |
p. 155-158
4 p.
|
artikel
|
| 7 |
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations
|
Tyshchenko, Nataliya A.
|
|
2007
|
50 |
2 |
p. 128-132
5 p.
|
artikel
|
| 8 |
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation
|
Bernardini, Laura
|
|
2007
|
50 |
2 |
p. 94-102
9 p.
|
artikel
|
| 9 |
Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome
|
Galán-Gómez, Enrique
|
|
2007
|
50 |
2 |
p. 144-148
5 p.
|
artikel
|
| 10 |
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH
|
Priolo, Manuela
|
|
2007
|
50 |
2 |
p. 139-143
5 p.
|
artikel
|
| 11 |
Posterior helical pits
|
Prescott, Trine E.
|
|
2007
|
50 |
2 |
p. 159-161
3 p.
|
artikel
|
| 12 |
Pure partial trisomy of 6p12.1–p22.1 secondary to a familial 12/6 insertion in two malformed babies
|
Fogu, Giuseppina
|
|
2007
|
50 |
2 |
p. 103-111
9 p.
|
artikel
|
| 13 |
Signs in dysmorphology
|
Devriendt, Koen
|
|
2007
|
50 |
2 |
p. 93-
1 p.
|
artikel
|
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