:?

M Martijn Piet1, Kees P J Braun2, Bobby P C Koeleman3

  • 1Department of Child Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, European Reference Network EpiCARE, Heidelberglaan 100, Utrecht, CX 3584, The Netherlands; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, European Reference Network EpiCARE, Heidelberglaan 100, Utrecht, CX 3584, The Netherlands.

Trends in genetics : TIG
|February 11, 2026
PubMed
概括

的分类正在发展,超越了简单的遗传或非遗传类别. 一个新的范式表明,所有都存在于受常见和罕见遗传变异影响的频谱上,影响诊断和护理.