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Year Number of Results
2009 1
2010 2
2012 1
2013 2
2016 2
2017 3
2018 3
2019 7
2020 8
2021 3
2022 3
2023 1
2024 1

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Page 1
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A, Leiter SM, Bachmann N, Bergmann C, Hoermann H, Korsch E, Meissner T, Payne F, Williams R, Hussain K, Semple RK, Kummer S. Welters A, et al. Among authors: bachmann n. Orphanet J Rare Dis. 2023 Nov 16;18(1):360. doi: 10.1186/s13023-023-02954-5. Orphanet J Rare Dis. 2023. PMID: 37974153 Free PMC article.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: bachmann n. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E, Kremerskothen E, Halleck F, Staeck O, Liefeldt L, Choi M, Schüler M, Weber U, Bachmann N, Grohmann M, Wagner T, Budde K, Bergmann C. Schrezenmeier E, et al. Among authors: bachmann n. Genet Med. 2021 Dec;23(12):2468. doi: 10.1038/s41436-021-01283-x. Genet Med. 2021. PMID: 34302124 Free PMC article. No abstract available.
Heritability of the HIV-1 reservoir size and decay under long-term suppressive ART.
Wan C, Bachmann N, Mitov V, Blanquart F, Céspedes SP, Turk T, Neumann K, Beerenwinkel N, Bogojeska J, Fellay J, Roth V, Böni J, Perreau M, Klimkait T, Yerly S, Battegay M, Walti L, Calmy A, Vernazza P, Bernasconi E, Cavassini M, Metzner KJ, Günthard HF, Kouyos RD; Swiss HIV Cohort Study. Wan C, et al. Among authors: bachmann n. Nat Commun. 2020 Nov 2;11(1):5542. doi: 10.1038/s41467-020-19198-7. Nat Commun. 2020. PMID: 33139735 Free PMC article.
Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment.
Thorball CW, Borghesi A, Bachmann N, Von Siebenthal C, Vongrad V, Turk T, Neumann K, Beerenwinkel N, Bogojeska J, Roth V, Kok YL, Parbhoo S, Wieser M, Böni J, Perreau M, Klimkait T, Yerly S, Battegay M, Rauch A, Schmid P, Bernasconi E, Cavassini M, Kouyos RD, Günthard HF, Metzner KJ, Fellay J; Swiss HIV Cohort Study. Thorball CW, et al. Among authors: bachmann n. J Acquir Immune Defic Syndr. 2020 Dec 1;85(4):517-524. doi: 10.1097/QAI.0000000000002473. J Acquir Immune Defic Syndr. 2020. PMID: 33136754 Free article.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D. Epting D, et al. Among authors: bachmann n. Hum Mutat. 2020 Dec;41(12):2179-2194. doi: 10.1002/humu.24127. Epub 2020 Nov 1. Hum Mutat. 2020. PMID: 33131181 Free PMC article.
35 results