Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | Views | |
---|---|---|---|---|
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference | 2016 | |||
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | 52 | ||
Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015 | 2015 | 143 | ||
Radiological features of PIK3CA-related overgrowth spectrum (PROS) Proceeding/Conference:Annual Scientific Meeting of Hong Kong College of Radiologists, HKCR 2016 | 2016 | 31 |