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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 18
2016 15
2017 13
2018 13
2019 19
2020 16
2021 15
2022 16
2023 6
2024 5

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211 results

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Page 1
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.
Reply.
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.
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.
Suitability of nitisinone for alkaptonuria.
Häberle J. Häberle J. Lancet Diabetes Endocrinol. 2020 Sep;8(9):732-733. doi: 10.1016/S2213-8587(20)30222-9. Epub 2020 Aug 18. Lancet Diabetes Endocrinol. 2020. PMID: 32822593 Review. No abstract available.
Carbonic Anhydrase VA Deficiency.
van Karnebeek C, Häberle J. van Karnebeek C, et al. Among authors: haberle j. 2015 Apr 2 [updated 2021 Aug 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Apr 2 [updated 2021 Aug 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 25834911 Free Books & Documents. Review.
211 results