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Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
American journal of human genetics, 2011-06, Vol.88 (6), p.729-740
2011
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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Annals of clinical and translational neurology, 2020-03, Vol.7 (3), p.353-362
2020
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Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
American journal of human genetics, 2004-10, Vol.75 (4), p.703-708
2004
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
American journal of human genetics, 2010-12, Vol.87 (6), p.842-847
2010
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Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy
Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (9), p.1058-1060
2014
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Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations
Neuromuscular disorders : NMD, 2013-02, Vol.23 (2), p.165-169
2013
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A molecular comparison of microbial communities in bronchiectasis and cystic fibrosis
The European respiratory journal, 2013-04, Vol.41 (4), p.991-993
2013
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A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome
Mitochondrion, 2015-11, Vol.25, p.113-119
2015
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
American journal of human genetics, 2011-01, Vol.88 (1), p.122-122
2011
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2021 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations: Summary From the Basic Life Support; Advanced Life Support; Neonatal Life Support; Education, Implementation, and Teams; First Aid Task Forces; and the COVID-19 Working Group
Resuscitation, 2021-12, Vol.169, p.229-311
2021
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2021 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations: Summary From the Basic Life Support; Advanced Life Support; Neonatal Life Support; Education, Implementation, and Teams; First Aid Task Forces; and the COVID-19 Working Group
Circulation (New York, N.Y.), 2022-03, Vol.145 (9), p.e645-e721
2022
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Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease
Circulation (New York, N.Y.), 1999-02, Vol.99 (7), p.861-866
1999
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Quantitative linkage genome scan for atopy in a large collection of Caucasian families
Human genetics, 2007-03, Vol.121 (1), p.83-92
2007
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