eP449: Expansion of the prenatal phenotype of PIEZO1 variants
Natalie Burrill(Children's Hospital of Philadelphia), Julie S. Moldenhauer(Children's Hospital of Philadelphia), Līvija Medne(Children's Hospital of Philadelphia), Edward R. Oliver(Children's Hospital of Philadelphia), Christina Paidas Teefey(Children's Hospital of Philadelphia), Natalie E. Rintoul(University of Pennsylvania), Kathryn Maschhoff(Children's Hospital of Philadelphia), Beverly G. Coleman, Steven C. Horii(Children's Hospital of Philadelphia), Lisa Pilchman, Erica Schindwolf(Children's Hospital of Philadelphia), Emma Bedoukian(Vienna Biocenter), Juliana Gebb(Children's Hospital of Philadelphia), Alanna Strong(Children's Hospital of Philadelphia), Nahla Khalek(Children's Hospital of Philadelphia)
Cited by 0
Related Papers
Permanent Alteration of PCSK9 With In Vivo CRISPR-Cas9 Genome Editing
|Circulation Research|2014|527
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
|Genome biology|2014|432
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
|Human Mutation|2009|314
Targeted treatment of migrating partial seizures of infancy with quinidine
|Annals of Neurology|2014|264