| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new mutation in COG7 extends the spectrum of COG subunit deficiencies
|
Zeevaert, Renate
|
|
2009
|
52 |
5 |
p. 303-305
3 p.
|
artikel
|
| 2 |
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities
|
Bremer, Anna
|
|
2009
|
52 |
5 |
p. 358-362
5 p.
|
artikel
|
| 3 |
An 8.35Â Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions
|
Verheij, J.B.G.M.
|
|
2009
|
52 |
5 |
p. 353-357
5 p.
|
artikel
|
| 4 |
Associated malformations in patients with esophageal atresia
|
Stoll, Claude
|
|
2009
|
52 |
5 |
p. 287-290
4 p.
|
artikel
|
| 5 |
Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays
|
Beaujard, Marie-Paule
|
|
2009
|
52 |
5 |
p. 321-327
7 p.
|
artikel
|
| 6 |
A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation
|
Stora, Samantha
|
|
2009
|
52 |
5 |
p. 341-343
3 p.
|
artikel
|
| 7 |
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
|
Stattin, Eva-Lena
|
|
2009
|
52 |
5 |
p. 297-302
6 p.
|
artikel
|
| 8 |
Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3
|
Delahaye, A.
|
|
2009
|
52 |
5 |
p. 328-332
5 p.
|
artikel
|
| 9 |
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases
|
Schluth-Bolard, Caroline
|
|
2009
|
52 |
5 |
p. 291-296
6 p.
|
artikel
|
| 10 |
CV2 Editorial Board redaction
|
|
|
2009
|
52 |
5 |
p. IFC-
1 p.
|
artikel
|
| 11 |
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia
|
Cau, Milena
|
|
2009
|
52 |
5 |
p. 344-348
5 p.
|
artikel
|
| 12 |
Familial Sotos syndrome caused by a novel missense mutation, C2175S, in NSD1 and associated with normal intelligence, insulin dependent diabetes, bronchial asthma, and lipedema
|
Zechner, Ulrich
|
|
2009
|
52 |
5 |
p. 306-310
5 p.
|
artikel
|
| 13 |
Germline mutations in the von Hippel–Lindau gene in Italian patients
|
Ciotti, Paola
|
|
2009
|
52 |
5 |
p. 311-314
4 p.
|
artikel
|
| 14 |
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
|
Fagali, Claudia
|
|
2009
|
52 |
5 |
p. 333-336
4 p.
|
artikel
|
| 15 |
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome
|
Uzumcu, Abdullah
|
|
2009
|
52 |
5 |
p. 315-320
6 p.
|
artikel
|
| 16 |
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
|
Koudova, Monika
|
|
2009
|
52 |
5 |
p. 337-340
4 p.
|
artikel
|
| 17 |
3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition
|
Li, Feng
|
|
2009
|
52 |
5 |
p. 349-352
4 p.
|
artikel
|
| 18 |
The etiology of congenital diaphragmatic hernia: Still largely unknown?
|
Klaassens, M.
|
|
2009
|
52 |
5 |
p. 281-286
6 p.
|
artikel
|
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