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Page 1
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Among authors: treichel am. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.
Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Treichel AM, et al. Genet Med. 2019 Nov;21(11):2594-2604. doi: 10.1038/s41436-019-0520-3. Epub 2019 May 22. Genet Med. 2019. PMID: 31114024 Free PMC article.
Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex.
Pithadia DJ, Treichel AM, Lee CR, Cowen EW, Linehan WM, Moss J, Darling TN. Pithadia DJ, et al. Among authors: treichel am. JAAD Case Rep. 2019 Apr 5;5(4):368-371. doi: 10.1016/j.jdcr.2019.02.009. eCollection 2019 Apr. JAAD Case Rep. 2019. PMID: 31008171 Free PMC article. No abstract available.
11 results