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Biosafety Considerations of Mammalian-Transmissible H5N1 Influenza
Published 2012-05-01Get full text
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024 Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort
Published 2021-08-01Article -
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Mitochondrial Strokes: Diagnostic Challenges and Chameleons
Published 2021-10-01Get full text
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The Sar1 GTPase is dispensable for COPII-dependent cargo export from the ER
Published 2023-06-01Get full text
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The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies
Published 2018-06-01Get full text
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Ageing contributes to phenotype transition in a mouse model of periodic paralysis
Published 2021-07-01Get full text
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Opinion: more mouse models and more translation needed for ALS
Published 2023-05-01Get full text
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Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes
Published 2018-10-01Get full text
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Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2
Published 2008-10-01Get full text
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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
Published 2022-11-01Get full text
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Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice
Published 2022-12-01Get full text
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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
Published 2018-04-01Get full text
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