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Extreme growth failure is a common presentation of ligase IV deficiency.
Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
Hum Mutat. 2014.
PMID: 24123394
Free PMC article.
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H.
Isrie M, et al. Among authors: doonanco k.
Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.
Am J Hum Genet. 2015.
PMID: 26637975
Free PMC article.
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels.
Lee K, Seifert BA, Shimelis H, Ghosh R, Crowley SB, Carter NJ, Doonanco K, Foreman AK, Ritter DI, Jimenez S, Trapp M, Offit K, Plon SE, Couch FJ.
Lee K, et al. Among authors: doonanco k.
Genet Med. 2019 Jul;21(7):1497-1506. doi: 10.1038/s41436-018-0361-5. Epub 2018 Dec 3.
Genet Med. 2019.
PMID: 30504931
Free PMC article.
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Homozygous TRAP1 sequence variant in a child with Leigh syndrome and normal kidneys.
Skinner SJ, Doonanco KR, Boles RG, Chan AK.
Skinner SJ, et al. Among authors: doonanco kr.
Kidney Int. 2014 Oct;86(4):860. doi: 10.1038/ki.2014.208.
Kidney Int. 2014.
PMID: 25265962
Free article.
No abstract available.
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