Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
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Title
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 19, Issue 8, Pages 875-882
Publisher
Springer Nature
Online
2017-04-12
DOI
10.1038/gim.2016.204
References
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- (2013) Marta Romani et al. LANCET NEUROLOGY
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- (2013) G. Peng et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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- (2012) Myriam Srour et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
- (2010) Simon Edvardson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing
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- (2009) Meral Gunay-Aygun AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
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