prof. dr. ir. Björn Menten
work address
De Pintelaan 185, ingang 34 (MRB)
9000 Gent
9000 Gent
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- 2017
- Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- FOXP1-related intellectual disability syndrome : a recognisable entity
- Direct comparison of distinct naive pluripotent states in human embryonic stem cells
- arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- 2016
- Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1
- Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory
- RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome
- Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage
- FOXP1-related intellectual disability syndrome : a recognizable entity