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

Year Number of Results
2006 2
2010 1
2012 1
2013 1
2015 2
2016 1
2017 2
2018 2
2020 1
2021 1
2022 3
2023 2
2024 1

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15 results

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Page 1
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.
Johansson J, Lidéus S, Frykholm C, Gunnarsson C, Mihalic F, Gudmundsson S, Ekvall S, Molin AM, Pham M, Vihinen M, Lagerstedt-Robinson K, Nordgren A, Jemth P, Ameur A, Annerén G, Wilbe M, Bondeson ML. Johansson J, et al. Among authors: frykholm c. Eur J Hum Genet. 2024 Mar;32(3):333-341. doi: 10.1038/s41431-023-01392-y. Epub 2023 Jun 5. Eur J Hum Genet. 2024. PMID: 37277488 Free PMC article.
Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication.
Lodefalk M, Frykholm C, Esbjörner E, Ljunggren Ö. Lodefalk M, et al. Among authors: frykholm c. Horm Res Paediatr. 2016;85(3):213-8. doi: 10.1159/000442747. Epub 2015 Dec 17. Horm Res Paediatr. 2016. PMID: 26675490
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, Kazamia K, Lindberg A, Mulaiese N, Falck G, Gustafsson PE, Lidéus S, Gudmundsson S, Ameur A, Bondeson ML, Wilbe M. Johansson J, et al. Among authors: frykholm c. Am J Med Genet A. 2022 Jun;188(6):1676-1687. doi: 10.1002/ajmg.a.62685. Epub 2022 Feb 15. Am J Med Genet A. 2022. PMID: 35166435 Free PMC article.
Familial Ménière's disease in five generations.
Frykholm C, Larsen HC, Dahl N, Klar J, Rask-Andersen H, Friberg U. Frykholm C, et al. Otol Neurotol. 2006 Aug;27(5):681-6. doi: 10.1097/01.mao.0000226315.27811.c8. Otol Neurotol. 2006. PMID: 16868516
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L. Zhao JJ, et al. Among authors: frykholm c. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 28990276 Free PMC article.
Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.
Charlton JR, Tan W, Daouk G, Teot L, Rosen S, Bennett KM, Cwiek A, Nam S, Emma F, Jouret F, Oliveira JP, Tranebjærg L, Frykholm C, Mane S, Hildebrandt F, Srivastava T, Storm T, Christensen EI, Nielsen R. Charlton JR, et al. Among authors: frykholm c. Am J Physiol Renal Physiol. 2020 Dec 1;319(6):F988-F999. doi: 10.1152/ajprenal.00295.2020. Epub 2020 Oct 26. Am J Physiol Renal Physiol. 2020. PMID: 33103447 Free PMC article.
15 results