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

Year Number of Results
2006 1
2007 1
2009 1
2011 1
2012 1
2015 1
2016 5
2017 2
2019 1
2020 2
2021 8
2022 6
2023 2
2024 1

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Page 1
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ, Ng BG, Jennions E, Blomqvist M, Sandqvist Wiklund A, Hedberg-Oldfors C, Gonzalez CR, Freeze HH, Ygberg S, Eklund EA. Xia ZJ, et al. Among authors: ygberg s. JIMD Rep. 2022 Sep 21;64(1):79-89. doi: 10.1002/jmd2.12338. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636598 Free PMC article.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: ygberg s. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group".
Pfeiffer HCV, De Visscher C, Gjone IH, Ygberg S, Herner LB, Hesselmark E, Idring Nordstrom S, Sandvig I, Skov L, Sørensen CB, Lim M, Wickstrom R, Hedderly T, Debes NM. Pfeiffer HCV, et al. Among authors: ygberg s. Acta Paediatr. 2021 Dec;110(12):3390-3391. doi: 10.1111/apa.16149. Epub 2021 Nov 11. Acta Paediatr. 2021. PMID: 34644418 No abstract available.
30 results