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Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Genet Med. 2016 Jul;18(7):686-95. doi: 10.1038/gim.2015.147. Epub 2015 Dec 3.
Genet Med. 2016.
PMID: 26633546
Free article.
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Alsaif HS, Al Ali H, Faqeih E, Ramadan SM, Barth M, Colin E, Prouteau C, Bonneau D, Ziegler A, Alkuraya FS.
Alsaif HS, et al.
Hum Genet. 2021 Sep;140(9):1395-1401. doi: 10.1007/s00439-021-02321-z. Epub 2021 Jul 27.
Hum Genet. 2021.
PMID: 34313816
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