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Paper Details

Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
J Mol Diagn
7
2022
candidate gene, genetic conditions, genetic disorders, genome, human, neurodevelopmental disorders, seizures
Author NameAffiliation
Xiaonan ZhaoChildren's Hospital of Philadelphia
Kajia CaoChildren's Hospital of Philadelphia
Matthew C DulikChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Laura K ConlinChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Minjie LuoChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Minjie LuoChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Ingo HelbigChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Elaine H ZackaiChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
Ian D KrantzChildren's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
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Release 1.2