Pamela Rathbun

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 5

Top Topics

Optical Coherence Tomography

Top Venues

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E Prada, Kai Lee Yap
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia. American journal of medical genetics. Part A 194 (8) (2024)
Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E Prada, Kai Lee Yap
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia. American journal of medical genetics. Part A 194 (8) (2024)
Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E Prada, Kai Lee Yap
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia. American journal of medical genetics. Part A (2024)
Andy Drackley, Merlene Peter, Pamela Rathbun, Alexander Ing, Carlos E Prada, Kai Lee Yap
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia. American journal of medical genetics. Part A 194 (8) (2024)
Andy Drackley, Lenika De Simone, Nancy L Kuntz, Safa Rahmani, Alexander Ing, Vamshi K Rao, Pamela Rathbun, Kai Lee Yap
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16. American journal of medical genetics. Part A (2023)