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

Year Number of Results
1965 1
1985 1
1998 2
2000 1
2001 2
2002 1
2003 4
2004 4
2005 6
2006 6
2007 3
2008 1
2009 4
2010 4
2011 7
2012 3
2013 5
2014 3
2015 4
2016 4
2017 7
2018 5
2019 9
2020 10
2021 7
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85 results
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Page 1
Improving post-natal detection of mitochondrial DNA mutations.
Barcia G, Assouline Z, Magen M, Pennisi A, Rötig A, Munnich A, Bonnefont JP, Steffann J. Barcia G, et al. Among authors: steffann j. Expert Rev Mol Diagn. 2020 Oct;20(10):1003-1008. doi: 10.1080/14737159.2020.1820326. Epub 2020 Sep 20. Expert Rev Mol Diagn. 2020. PMID: 32902337
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Tessier A, Boutaud L, Bruel AL, Thauvin-Robinet C, Roth P, Malan V, Beaujard MP, Achaiaa A, de Oliveira J, Steffann J, Encha-Razavi F, Faivre L, Bessières B, Attié-Bitach T. Tessier A, et al. Among authors: steffann j. Clin Genet. 2020 Dec;98(6):620-621. doi: 10.1111/cge.13840. Epub 2020 Sep 14. Clin Genet. 2020. PMID: 32926417
Clinical utility gene card: for incontinentia pigmenti.
Fusco F, Pescatore A, Steffann J, Bonnefont JP, De Oliveira J, Lioi MB, Ursini MV. Fusco F, et al. Among authors: steffann j. Eur J Hum Genet. 2019 Dec;27(12):1894-1900. doi: 10.1038/s41431-019-0463-9. Epub 2019 Jul 9. Eur J Hum Genet. 2019. PMID: 31289372 Free PMC article. No abstract available.
Expanding the clinical spectrum of MTTF mutations.
Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A. Barcia G, et al. Among authors: steffann j. Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31463198 Free PMC article.
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.
Aloui C, Guey S, Pipiras E, Kossorotoff M, Guéden S, Corpechot M, Bessou P, Pedespan JM, Husson M, Hervé D, Riant F, Kraemer M, Steffann J, Quenez O, Tournier-Lasserve E. Aloui C, et al. Among authors: steffann j. J Med Genet. 2020 May;57(5):339-346. doi: 10.1136/jmedgenet-2019-106525. Epub 2020 Jan 10. J Med Genet. 2020. PMID: 31924698
After the Storm - A Responsible Path for Genome Editing.
Daley GQ, Lovell-Badge R, Steffann J. Daley GQ, et al. Among authors: steffann j. N Engl J Med. 2019 Mar 7;380(10):897-899. doi: 10.1056/NEJMp1900504. Epub 2019 Jan 16. N Engl J Med. 2019. PMID: 30649993 No abstract available.
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: steffann j. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: steffann j. Eur J Hum Genet. 2021 Mar;29(3):533-538. doi: 10.1038/s41431-020-00757-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168986
85 results
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