| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age-related macular degeneration and coronary heart disease: Evaluation of genetic and environmental associations
|
Keilhauer, Claudia N.
|
|
2013
|
56 |
2 |
p. 72-79
8 p.
|
artikel
|
| 2 |
Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?
|
Laffargue, Fanny
|
|
2013
|
56 |
2 |
p. 93-97
5 p.
|
artikel
|
| 3 |
Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder
|
Petersen, Andrea Klunder
|
|
2013
|
56 |
2 |
p. 118-122
5 p.
|
artikel
|
| 4 |
Embryos without secrets
|
Hens, Kristien
|
|
2013
|
56 |
2 |
p. 67-71
5 p.
|
artikel
|
| 5 |
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability
|
Schanze, Ina
|
|
2013
|
56 |
2 |
p. 108-113
6 p.
|
artikel
|
| 6 |
Heart defects and other features of the 22q11 distal deletion syndrome
|
Fagerberg, Christina R.
|
|
2013
|
56 |
2 |
p. 98-107
10 p.
|
artikel
|
| 7 |
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism
|
Calton, Elizabeth A.
|
|
2013
|
56 |
2 |
p. 114-117
4 p.
|
artikel
|
| 8 |
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
|
D'Asdia, Maria Cecilia
|
|
2013
|
56 |
2 |
p. 80-87
8 p.
|
artikel
|
| 9 |
Smith–Lemli–Opitz syndrome, cardiac defects, and spleen anomalies
|
Putotto, Carolina
|
|
2013
|
56 |
2 |
p. 123-
1 p.
|
artikel
|
| 10 |
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: Two cases and expansion of the phenotype to radial agenesis
|
Petit, Florence
|
|
2013
|
56 |
2 |
p. 88-92
5 p.
|
artikel
|
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