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Year | Number of Results |
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2016 | 1 |
2019 | 1 |
2020 | 2 |
2021 | 1 |
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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
J Mol Diagn. 2019 Jan;21(1):38-48. doi: 10.1016/j.jmoldx.2018.07.008.
J Mol Diagn. 2019.
PMID: 30577886
Free article.
The genetic structure of the Turkish population reveals high levels of variation and admixture.
Kars ME, Başak AN, Onat OE, Bilguvar K, Choi J, Itan Y, Çağlar C, Palvadeau R, Casanova JL, Cooper DN, Stenson PD, Yavuz A, Buluş H, Günel M, Friedman JM, Özçelik T.
Kars ME, et al.
Proc Natl Acad Sci U S A. 2021 Sep 7;118(36):e2026076118. doi: 10.1073/pnas.2026076118.
Proc Natl Acad Sci U S A. 2021.
PMID: 34426522
Free PMC article.
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR.
Harel T, et al.
Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.
Am J Hum Genet. 2016.
PMID: 26942288
Free PMC article.
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Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
Marquez J, Criscione J, Charney RM, Prasad MS, Hwang WY, Mis EK, García-Castro MI, Khokha MK.
Marquez J, et al.
J Clin Invest. 2020 Feb 3;130(2):813-826. doi: 10.1172/JCI129308.
J Clin Invest. 2020.
PMID: 31904590
Free PMC article.
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Structural and mechanistic basis of the EMC-dependent biogenesis of distinct transmembrane clients.
Miller-Vedam LE, Bräuning B, Popova KD, Schirle Oakdale NT, Bonnar JL, Prabu JR, Boydston EA, Sevillano N, Shurtleff MJ, Stroud RM, Craik CS, Schulman BA, Frost A, Weissman JS.
Miller-Vedam LE, et al.
Elife. 2020 Nov 25;9:e62611. doi: 10.7554/eLife.62611.
Elife. 2020.
PMID: 33236988
Free PMC article.
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