Stylianos E. Antonarakis
Genetiker,
Hochschullehrer
Geboren:
1951
Creative Commons Attribution 3.0
Werke:
- Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report
- Biallelic variants in KIF14 cause intellectual disability with microcephaly
- Modelling and rescuing neurodevelopmental defect of D own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
- Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree