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

Year Number of Results
2005 1
2006 1
2008 1
2009 1
2013 3
2014 6
2015 7
2016 4
2017 1
2018 2
2019 6
2020 4
2021 1
2022 2
2023 1
2024 1

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32 results

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Page 1
The Diagnostic Landscape of Adult Neurogenetic Disorders.
Waung MW, Ma F, Wheeler AG, Zai CC, So J. Waung MW, et al. Among authors: so j. Biology (Basel). 2023 Nov 22;12(12):1459. doi: 10.3390/biology12121459. Biology (Basel). 2023. PMID: 38132285 Free PMC article. Review.
Microdeletion 8q22.2-q22.3 in a 40-year-old male.
Sinajon P, Gofine T, Ingram J, So J. Sinajon P, et al. Among authors: so j. Eur J Med Genet. 2015 Nov;58(11):569-72. doi: 10.1016/j.ejmg.2015.10.004. Epub 2015 Oct 9. Eur J Med Genet. 2015. PMID: 26455667
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S, Gutierrez Salazar M, Zakoor KR, Lázaro C, Gu J, Goltz J, Kleinman D, Noor A, Khalouei S, Mighton C, Reble E, Kodida R, Bombard Y, DiTroia S, Baxter S, Watkins N, Care M, Adler A, Horsburgh S, Morar O, Murphy J, Nevay DL, Szybowska M, Aronson M, Panchal S, Godoy R, Holter S, Randall Armel S, Semotiuk K, Elser C, Kim RH, Chitayat D, So J, Faghfoury H, Silver J, Morel CF, Lerner-Ellis J. Shickh S, et al. Among authors: so j. J Med Genet. 2021 Apr;58(4):275-283. doi: 10.1136/jmedgenet-2020-106936. Epub 2020 Jun 24. J Med Genet. 2021. PMID: 32581083 Free PMC article.
PhenoTips: patient phenotyping software for clinical and research use.
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. Girdea M, et al. Among authors: so j. Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24. Hum Mutat. 2013. PMID: 23636887
Congenital chylothorax in Opitz G/BBB syndrome.
Funke S, Kellermayer R, Czakó M, So J, Kosztolányi G, Ertl T. Funke S, et al. Among authors: so j. Am J Med Genet A. 2006 May 15;140(10):1119-21. doi: 10.1002/ajmg.a.31224. Am J Med Genet A. 2006. PMID: 16619207 No abstract available.
32 results