subject area of
- A UV-specific endonucleolytic activity present in human cell extracts Journal Articles
- COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage Journal Articles
- Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly Journal Articles
- Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype Journal Articles
- Electron Microscopy of Skin and Peripheral Blood Lymphocytes in Infantile (Santavuori) Neuronal Ceroid Lipofuscinosis Journal Articles
- Fetal alcohol syndrome and the developing socio-emotional brain Conferences
- Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis Journal Articles
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome Journal Articles
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder? Journal Articles
- Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability Journal Articles
- Phosphoglycerate dehydrogenase inhibition induces p-mTOR-independent autophagy and promotes multilineage differentiation in embryonal carcinoma stem-like cells Journal Articles
- Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications Journal Articles