Showing 1 - 2 results of 2 for search '"Episignature"', query time: 0.04s Refine Results
  1. 1
    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

    Published 2025-01-01
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  2. 2
    Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

    Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool by Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini de Oliveira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Matheus Augusto Araujo Castro, Mayara T. Sakuma, Fernando Kok, Bekim Sadikovic, Leslie Domenici Kulikowski

    Published 2024-11-01
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