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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
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2024 | 0 |
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A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7.
Am J Med Genet A. 2023.
PMID: 36751037
Free PMC article.
TRIM18 is a critical regulator of viral myocarditis and organ inflammation.
Fang M, Zhang A, Du Y, Lu W, Wang J, Minze LJ, Cox TC, Li XC, Xing J, Zhang Z.
Fang M, et al.
J Biomed Sci. 2022 Jul 31;29(1):55. doi: 10.1186/s12929-022-00840-z.
J Biomed Sci. 2022.
PMID: 35909127
Free PMC article.
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A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA.
Biesecker LG, et al.
Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013.
Am J Hum Genet. 2021.
PMID: 33417889
Free PMC article.
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