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Year Number of Results
2011 1
2013 2
2014 1
2015 3
2016 1
2017 2
2020 2
2021 2
2022 1
2024 0

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14 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: reiter sf. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
Epilepsi hos blivende foreldre.
Reiter SF. Reiter SF. Tidsskr Nor Laegeforen. 2017 May 2;137(9):651. doi: 10.4045/tidsskr.17.0063. eCollection 2017 May. Tidsskr Nor Laegeforen. 2017. PMID: 28468491 Free article. Norwegian. No abstract available.
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H, Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Andersen PM, Beetz C, Hacker S, Holla ØL, Kurth I, Löscher WN, Reiter SBCF, Rudnik-Schöneborn S, Strand L, Windhager R, Witsch-Baumgartner M, Senderek J, Auer-Grumbach M. Høyer H, et al. Among authors: reiter sbcf. J Med Genet. 2022 Oct;59(10):1024-1026. doi: 10.1136/jmedgenet-2021-108281. Epub 2022 Mar 22. J Med Genet. 2022. PMID: 35318247 Free PMC article. No abstract available.
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Mannucci I, et al. Among authors: reiter sf. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. Genome Med. 2021. PMID: 34020708 Free PMC article.
Glitazone use associated with reduced risk of Parkinson's disease.
Brakedal B, Flønes I, Reiter SF, Torkildsen Ø, Dölle C, Assmus J, Haugarvoll K, Tzoulis C. Brakedal B, et al. Among authors: reiter sf. Mov Disord. 2017 Nov;32(11):1594-1599. doi: 10.1002/mds.27128. Epub 2017 Sep 1. Mov Disord. 2017. PMID: 28861893 Free PMC article.
14 results