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

Year Number of Results
2002 1
2005 2
2006 3
2007 1
2008 1
2009 5
2010 5
2011 4
2012 4
2013 3
2014 7
2015 4
2016 4
2017 4
2018 1
2019 6
2020 4
2021 2
2022 6
2023 3
2024 0

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65 results

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Page 1
Recurrent GATA1 mutations in Diamond-Blackfan anaemia.
Klar J, Khalfallah A, Arzoo PS, Gazda HT, Dahl N. Klar J, et al. Br J Haematol. 2014 Sep;166(6):949-51. doi: 10.1111/bjh.12919. Epub 2014 Apr 28. Br J Haematol. 2014. PMID: 24766296 Free article. No abstract available.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J. Delvallée C, et al. Among authors: klar j. Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14. Clin Genet. 2021. PMID: 33169370 Free PMC article.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Fatima A, et al. Among authors: klar j. Am J Hum Genet. 2022 Mar 3;109(3):542-546. doi: 10.1016/j.ajhg.2022.02.007. Am J Hum Genet. 2022. PMID: 35245475 Free PMC article. No abstract available.
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH. Stattin EL, et al. Among authors: klar j. Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2. Sci Rep. 2017. PMID: 28592808 Free PMC article.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Keren B, Mignot C, Akram T, Ali Z, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Abdullah U, Ali MA, Fadoul R, Laan L, Castillejo-López C, Liik M, Jin Z, Birnir B, Matsumoto N, Baig SM, Klar J, Dahl N. Fatima A, et al. Among authors: klar j. Am J Hum Genet. 2021 Apr 1;108(4):739-748. doi: 10.1016/j.ajhg.2021.02.015. Epub 2021 Mar 11. Am J Hum Genet. 2021. PMID: 33711248 Free PMC article.
ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.
Schuster J, Klar J, Khalfallah A, Laan L, Hoeber J, Fatima A, Sequeira VM, Jin Z, Korol SV, Huss M, Nordgren A, Anderlid BM, Gallant C, Birnir B, Dahl N. Schuster J, et al. Among authors: klar j. Front Mol Neurosci. 2022 Oct 24;15:988993. doi: 10.3389/fnmol.2022.988993. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36353360 Free PMC article.
65 results