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Title: Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G > A and c.8147T > C mutations
Author(s): Os, N.J.H. van ; Chessa, Luciana; Weemaes, C.M.R. ; Deuren, M. van ; Fievet, Alice; Gaalen, J. van ; Roeleveld, N. ; Warrenburg, B.P.C. van de ; Doerk, Thilo; Willemsen, M.A.A.P.
Publication year: 2019
Source: Journal of Medical Genetics, vol. 56, iss. 5, (2019), pp. 308-316
ISSN: 0022-2593
DOI: https://doi.org/10.1136/jmedgenet-2018-105635
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/203873   https://hdl.handle.net/2066/203873

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Subject: All institutes and research themes of the Radboud University Medical Center
Radboudumc 10: Reconstructive and regenerative medicine RIHS: Radboud Institute for Health 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
Organization: Paediatrics
Neurology
Internal Medicine
Health Evidence
Journal title:
Journal of Medical Genetics
Volume: vol. 56
Issue: iss. 5
Page start: p. 308
Page end: p. 316

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