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Results by year

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

Year Number of Results
2006 1
2007 1
2009 1
2010 1
2011 1
2012 4
2013 3
2014 2
2015 2
2016 1
2017 2
2018 2
2019 2
2020 1
2022 2
2024 0

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PubMed for Bookshelf ID: 2459214

23 results

Results by year

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Page 1
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa.
Mauger TF, Mundy CL, Oostra TD, Patel PJ. Mauger TF, et al. Am J Ophthalmol Case Rep. 2019 May 30;15:100477. doi: 10.1016/j.ajoc.2019.100477. eCollection 2019 Sep. Am J Ophthalmol Case Rep. 2019. PMID: 31194159 Free PMC article.
Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency.
Hibino M, Sakai Y, Kato W, Tanaka K, Tajima K, Yokoyama T, Iwasa M, Morisaki H, Tsuzuki T, Usui A. Hibino M, et al. Ann Thorac Surg. 2018 Feb;105(2):e59-e61. doi: 10.1016/j.athoracsur.2017.08.041. Ann Thorac Surg. 2018. PMID: 29362193
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963
23 results