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

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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35 results

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Page 1
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.
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.
Determinants of HIV-1 reservoir size and long-term dynamics during suppressive ART.
Bachmann N, von Siebenthal C, Vongrad V, Turk T, Neumann K, Beerenwinkel N, Bogojeska J, Fellay J, Roth V, Kok YL, Thorball CW, Borghesi A, Parbhoo S, Wieser M, Böni J, Perreau M, Klimkait T, Yerly S, Battegay M, Rauch A, Hoffmann M, Bernasconi E, Cavassini M, Kouyos RD, Günthard HF, Metzner KJ; Swiss HIV Cohort Study. Bachmann N, et al. Nat Commun. 2019 Jul 19;10(1):3193. doi: 10.1038/s41467-019-10884-9. Nat Commun. 2019. PMID: 31324762 Free PMC article.
A 4-Year-Old Boy with Beckwith Wiedemann Syndrome (BWS).
Janchevska A, Tasic V, Laban N, Polenakovic M, Gucev Z, Bachmann N, Bergmann C. Janchevska A, et al. Among authors: bachmann n. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018 Dec 1;39(2-3):131-135. doi: 10.2478/prilozi-2018-0052. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2018. PMID: 30864369 Free article.
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia.
Hoermann H, El-Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann C, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S. Hoermann H, et al. Among authors: bachmann n. Clin Endocrinol (Oxf). 2020 Sep;93(3):346-354. doi: 10.1111/cen.14267. Epub 2020 Jul 15. Clin Endocrinol (Oxf). 2020. PMID: 32533869
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.
35 results