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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2019 | 1 |
2020 | 4 |
2024 | 0 |
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6 results
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Page 1
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
Am J Hum Genet. 2019.
PMID: 31130284
Free PMC article.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR.
Calmels N, et al.
J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23.
J Med Genet. 2018.
PMID: 29572252
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Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N, Wang Z, Liu Q, Song N, Wilson CL, Ehrhardt MJ, Shelton K, Easton J, Mulder H, Kennetz D, Edmonson MN, Rusch MC, Downing JR, Hudson MM, Nichols KE, Zhang J, Robison LL, Yasui Y.
Qin N, et al.
J Clin Oncol. 2020 Aug 20;38(24):2728-2740. doi: 10.1200/JCO.19.02760. Epub 2020 Jun 4.
J Clin Oncol. 2020.
PMID: 32496904
Free PMC article.
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Molecular characterization of diffuse malignant peritoneal mesothelioma.
Hung YP, Dong F, Torre M, Crum CP, Bueno R, Chirieac LR.
Hung YP, et al.
Mod Pathol. 2020 Nov;33(11):2269-2279. doi: 10.1038/s41379-020-0588-y. Epub 2020 Jun 5.
Mod Pathol. 2020.
PMID: 32504035
Free article.
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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS.
Roman TS, et al.
Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26.
Am J Hum Genet. 2020.
PMID: 32853555
Free PMC article.
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Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.
Vessoni AT, Guerra CCC, Kajitani GS, Nascimento LLS, Garcia CCM.
Vessoni AT, et al.
Genet Mol Biol. 2020 May 20;43(1 suppl. 1):e20190085. doi: 10.1590/1678-4685-GMB-2019-0085. eCollection 2020.
Genet Mol Biol. 2020.
PMID: 32453336
Free PMC article.
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