| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling “Nijmegen breakage syndrome” phenotype
|
Berardinelli, F.
|
|
2007
|
50 |
3 |
p. 176-187
12 p.
|
artikel
|
| 2 |
A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations
|
Vaglio, Alicia
|
|
2007
|
50 |
3 |
p. 224-232
9 p.
|
artikel
|
| 3 |
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26
|
Cilliers, Deirdre D.
|
|
2007
|
50 |
3 |
p. 216-223
8 p.
|
artikel
|
| 4 |
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula
|
Felix, Janine F.
|
|
2007
|
50 |
3 |
p. 163-175
13 p.
|
artikel
|
| 5 |
CV2 Editorial Board redaction
|
|
|
2007
|
50 |
3 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Duplication 16q12.1–q22.1 characterized by array CGH in a girl with spina bifida
|
Gustavsson, Peter
|
|
2007
|
50 |
3 |
p. 237-241
5 p.
|
artikel
|
| 7 |
Left-ventricular non-compaction in a patient with monosomy 1p36
|
Thienpont, Bernard
|
|
2007
|
50 |
3 |
p. 233-236
4 p.
|
artikel
|
| 8 |
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis
|
Souraty, Noëlle
|
|
2007
|
50 |
3 |
p. 188-199
12 p.
|
artikel
|
| 9 |
Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation
|
Lesca, Gaëtan
|
|
2007
|
50 |
3 |
p. 200-208
9 p.
|
artikel
|
| 10 |
Severe skeletal dysplasia caused by undiagnosed hypothyroidism
|
Hüffmeier, Ulrike
|
|
2007
|
50 |
3 |
p. 209-215
7 p.
|
artikel
|
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