9 results on '"Baudet, A."'
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2. Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience.
3. eP391 - Tailoring the ACMG/AMP sequence variant interpretation guidelines to the unique aspects of germline ACADVL variants.
4. Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
5. Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
6. Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
7. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
8. THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE.
9. eP367 - Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework.
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