Associated Papers
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Delplancq G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt AK et al.
American Journal of Human Genetics, 2013
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
Han SW et al.
Plos One, 2013
23700467 (PubMed )
Supplement: pone.0064271.s004.xlsx › Sheet1
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