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

Year Number of Results
1961 1
1962 1
1968 1
1992 3
1993 2
1996 1
1997 2
1999 3
2001 2
2002 3
2003 7
2004 3
2005 5
2006 5
2007 5
2008 8
2009 8
2010 9
2011 12
2012 10
2013 10
2014 7
2015 19
2016 16
2017 13
2018 14
2019 23
2020 16
2021 15
2022 16
2023 6
2024 14
2025 1

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226 results

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Laemmle A, Häberle J, Willenbring H. Laemmle A, et al. Among authors: haberle j. Hepatology. 2022 Apr;75(4):1059-1060. doi: 10.1002/hep.32290. Epub 2022 Jan 26. Hepatology. 2022. PMID: 34935158 Free article. No abstract available.
Editorial.
Häberle J, Thöny B. Häberle J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1041-1043. doi: 10.1002/jimd.12179. J Inherit Metab Dis. 2019. PMID: 31769067 Free article. No abstract available.
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: haberle j. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Urea cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Matsumoto S, et al. Among authors: haberle j. J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20. J Hum Genet. 2019. PMID: 31110235 Review.
226 results