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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2003 1
2004 1
2005 1
2006 2
2009 2
2010 2
2011 2
2012 1
2013 3
2014 6
2015 1
2016 3
2017 2
2018 5
2019 3
2020 9
2021 10
2022 9
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Search Results

58 results
Results by year
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Page 1
Williams syndrome.
Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, Pober BR. Kozel BA, et al. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Nat Rev Dis Primers. 2021. PMID: 34140529 Free PMC article. Review.
Williams-Beuren syndrome in diverse populations.
Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, Boyle AP, Hu T, Addissie YA, Mok GTK, Tekendo-Ngongang C, Fieggen K, Prijoles EJ, Tanpaiboon P, Honey E, Luk HM, Lo IFM, Thong MK, Muthukumarasamy P, Jones KL, Belhassan K, Ouldim K, El Bouchikhi I, Bouguenouch L, Shukla A, Girisha KM, Sirisena ND, Dissanayake VHW, Paththinige CS, Mishra R, Kisling MS, Ferreira CR, de Herreros MB, Lee NC, Jamuar SS, Lai A, Tan ES, Ying Lim J, Wen-Min CB, Gupta N, Lotz-Esquivel S, Badilla-Porras R, Hussen DF, El Ruby MO, Ashaat EA, Patil SJ, Dowsett L, Eaton A, Innes AM, Shotelersuk V, Badoe Ë, Wonkam A, Obregon MG, Chung BHY, Trubnykova M, La Serna J, Gallardo Jugo BE, Chávez Pastor M, Abarca Barriga HH, Megarbane A, Kozel BA, van Haelst MM, Stevenson RE, Summar M, Adeyemo AA, Morris CA, Moretti-Ferreira D, Linguraru MG, Muenke M. Kruszka P, et al. Among authors: kozel ba. Am J Med Genet A. 2018 May;176(5):1128-1136. doi: 10.1002/ajmg.a.38672. Am J Med Genet A. 2018. PMID: 29681090 Free PMC article.
Elastin-driven genetic diseases.
Duque Lasio ML, Kozel BA. Duque Lasio ML, et al. Among authors: kozel ba. Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28. Matrix Biol. 2018. PMID: 29501665 Free PMC article. Review.
Response to Hamosh et al.
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. Among authors: kozel ba. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.
Elastic fiber ultrastructure and assembly.
Kozel BA, Mecham RP. Kozel BA, et al. Matrix Biol. 2019 Nov;84:31-40. doi: 10.1016/j.matbio.2019.10.002. Epub 2019 Oct 24. Matrix Biol. 2019. PMID: 31669522 Free PMC article. Review.
Developmental vascular malformations in EPAS1 gain-of-function syndrome.
Rosenblum JS, Wang H, Dmitriev PM, Cappadona AJ, Mastorakos P, Xu C, Jha A, Edwards N, Donahue DR, Munasinghe J, Nazari MA, Knutsen RH, Rosenblum BR, Smirniotopoulos JG, Pappo A, Spetzler RF, Vortmeyer A, Gilbert MR, McGavern DB, Chew E, Kozel BA, Heiss JD, Zhuang Z, Pacak K. Rosenblum JS, et al. Among authors: kozel ba. JCI Insight. 2021 Mar 8;6(5):e144368. doi: 10.1172/jci.insight.144368. JCI Insight. 2021. PMID: 33497361 Free PMC article.
Vascular elastic fiber heterogeneity in health and disease.
Halabi CM, Kozel BA. Halabi CM, et al. Among authors: kozel ba. Curr Opin Hematol. 2020 May;27(3):190-196. doi: 10.1097/MOH.0000000000000578. Curr Opin Hematol. 2020. PMID: 32141894 Free PMC article. Review.
Mild macrocytosis in Williams-Beuren syndrome.
Yu E, Feinn R, Bona R, Brink B, Sindhar S, Kozel BA, Pober BR. Yu E, et al. Among authors: kozel ba. Eur J Med Genet. 2020 Mar;63(3):103740. doi: 10.1016/j.ejmg.2019.103740. Epub 2019 Aug 14. Eur J Med Genet. 2020. PMID: 31419598
X-ray microtomosynthesis of unstained pathology tissue samples.
Nguyen DT, Larsen TC, Wang M, Knutsen RH, Yang Z, Bennett EE, Mazilu D, Yu ZX, Tao X, Donahue DR, Gharib AM, Bleck CKE, Moss J, Remaley AT, Kozel BA, Wen H. Nguyen DT, et al. Among authors: kozel ba. J Microsc. 2021 Jul;283(1):9-20. doi: 10.1111/jmi.13003. Epub 2021 Feb 18. J Microsc. 2021. PMID: 33482682 Free PMC article.
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. Among authors: kozel ba. 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. Review.
58 results