Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
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Publication year
2018Source
American Journal of Human Genetics, 102, 4, (2018), pp. 685-695ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics
Laboratory Medicine
Gastroenterology
Internal Medicine
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 102
Issue
iss. 4
Page start
p. 685
Page end
p. 695
Subject
Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; Gastroenterology - Radboud University Medical Center; Human Genetics - Radboud University Medical Center; Internal Medicine - Radboud University Medical Center; Laboratory Medicine - Radboud University Medical Center; Radboud University Medical CenterThis item appears in the following Collection(s)
- Academic publications [245400]
- Electronic publications [132893]
- Faculty of Medical Sciences [93207]
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