| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families
|
Shalev, Stavit A.
|
|
2012
|
55 |
4 |
p. 256-264
9 p.
|
artikel
|
| 2 |
Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD
|
Bernicot, Izabel
|
|
2012
|
55 |
4 |
p. 245-251
7 p.
|
artikel
|
| 3 |
A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability?
|
Kasnauskiene, Jurate
|
|
2012
|
55 |
4 |
p. 274-277
4 p.
|
artikel
|
| 4 |
Co-occurrence of Marfan syndrome and schizophrenia: What can be learned?
|
Van Den Bossche, Maarten J.A.
|
|
2012
|
55 |
4 |
p. 252-255
4 p.
|
artikel
|
| 5 |
Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia
|
Campuzano, O.
|
|
2012
|
55 |
4 |
p. 225-234
10 p.
|
artikel
|
| 6 |
Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
|
Piccione, Maria
|
|
2012
|
55 |
4 |
p. 238-244
7 p.
|
artikel
|
| 7 |
Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects
|
Arrington, Cammon B.
|
|
2012
|
55 |
4 |
p. 235-237
3 p.
|
artikel
|
| 8 |
Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus
|
Kremer, Valérie
|
|
2012
|
55 |
4 |
p. 269-273
5 p.
|
artikel
|
| 9 |
Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p
|
Oegema, Renske
|
|
2012
|
55 |
4 |
p. 265-268
4 p.
|
artikel
|
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