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Pamela Rathbun
ORCID
Publication Activity (10 Years)
Years Active: 2023-2024
Publications (10 Years): 5
Top Topics
Copy Number
Magnetic Resonance
Autism Spectrum Disorder
Diabetic Retinopathy
Top Venues
American journal of medical genetics. Part A
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This page only lists publications with an associated author ORCID identifier.
Publications
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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)