Associated Papers
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders.
Guo YX et al.
International Journal of General Medicine, 2021
Premature aging syndrome showing random chromosome number instabilities with CDC20 mutation.
Fujita H et al.
Aging Cell, 2020
33094908 (PubMed )
Supplement: ACEL-19-e13251-s001.pdf
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Abdrabo LS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M et al.
Molecular Genetics and Metabolism, 2016
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