1 – 10 of 13
- show: 10
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=""
width=""
height=""
allowtransparency="true"
frameborder="0">
</iframe>
- 2016
- 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
- 2014
- Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
- Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
- Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
- Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges
- 2009
- Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
- Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
- Unusual 8p inverted duplication deletion with telomere capture from 8q
- The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
- Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience