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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Clinical genetics, 2014-08, Vol.86 (2), p.134-141
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Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
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2018
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Molecular psychiatry, 2017-04, Vol.22 (4), p.615-624
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2017
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Nature (London), 2014-11, Vol.515 (7526), p.209-215
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2014
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- Sigaudy, Sabine
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The Journal of pediatrics, 2019-01, Vol.204, p.305-313.e14
- Aartsma-Rus, Annemieke
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2016
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2019
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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.262-275
2014
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Human mutation, 2013-11, Vol.34 (11), p.1519-1528
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JAMA neurology, 2023-09, Vol.80 (9), p.980
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2023
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Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S185-S185
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Therapeutics and clinical risk management, 2016-01, Vol.12 (Issue 1), p.479-487
2016
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Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.178-185
2015
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Journal of inherited metabolic disease, 2018-06, p.1-12
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