Associated Papers
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü et al.
Molecular Syndromology, 2022
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma S et al.
Clinical Genetics, 2021
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Petrikin JE et al.
Npj Genomic Medicine, 2018
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG et al.
Human Mutation, 2016
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