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496 results for your search :
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ERN-ITHACA Board Meeting
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Clinical features of SIGMAR1-related disorder
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Biallelic variants in ACER3 cause infantile and childhood-onset neurodegeneration
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Mitochondrial Complex I deficiency associated with biallelic NDUFA13 variants lead to Leigh syndrome
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Clinical Practice Guidelines
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Guidelines produced by ITHACA
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Guidelines endorsed by ITHACA
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Survival guide to genetics
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Delineating the phenotype of Alkuraya-Kucinskas syndrome: focus on neuroradiology
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Geno-phenotypic characterization of DSCAM loss