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

Year Number of Results
1995 1
1996 1
2002 1
2003 1
2004 3
2005 1
2006 3
2007 3
2008 5
2009 8
2010 6
2011 9
2012 9
2013 4
2014 12
2015 2
2016 6
2017 4
2018 3
2019 5
2020 7
2021 8
2022 5
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96 results
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Page 1
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: funalot b. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Endoneurial fibroblast-like cells.
Richard L, Topilko P, Magy L, Decouvelaere AV, Charnay P, Funalot B, Vallat JM. Richard L, et al. Among authors: funalot b. J Neuropathol Exp Neurol. 2012 Nov;71(11):938-47. doi: 10.1097/NEN.0b013e318270a941. J Neuropathol Exp Neurol. 2012. PMID: 23095846 Review.
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Among authors: funalot b. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
[Familial amyloidotic polyneuropathies].
Vallat JM, Funalot B, Faugeras F, Magy L. Vallat JM, et al. Among authors: funalot b. Bull Acad Natl Med. 2012 Oct;196(7):1321-9; discussion 1329-31. Bull Acad Natl Med. 2012. PMID: 23815017 Review. French.
[Hereditary peripheral neuropathies].
Vallat JM, Tazir M, Calvo J, Funalot B. Vallat JM, et al. Among authors: funalot b. Presse Med. 2009 Sep;38(9):1325-34. doi: 10.1016/j.lpm.2009.01.014. Epub 2009 Mar 26. Presse Med. 2009. PMID: 19327944 Review. French.
[Molecular diagnosis strategies in neurofibromatosis type 1].
Bhouri R, Hebrard B, Wolkenstein P, Funalot B. Bhouri R, et al. Among authors: funalot b. Ann Dermatol Venereol. 2020 Mar;147(3):247-251. doi: 10.1016/j.annder.2019.09.608. Epub 2019 Dec 20. Ann Dermatol Venereol. 2020. PMID: 31870577 French. No abstract available.
NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer.
Borie R, Funalot B, Epaud R, Delestrain C, Cazes A, Gounant V, Frija J, Debray MP, Zalcman G, Crestani B. Borie R, et al. Among authors: funalot b. ERJ Open Res. 2021 Nov 8;7(4):00356-2021. doi: 10.1183/23120541.00356-2021. eCollection 2021 Oct. ERJ Open Res. 2021. PMID: 34760996 Free PMC article.
Inherited peripheral neuropathies due to mitochondrial disorders.
Cassereau J, Codron P, Funalot B. Cassereau J, et al. Among authors: funalot b. Rev Neurol (Paris). 2014 May;170(5):366-74. doi: 10.1016/j.neurol.2013.11.005. Epub 2014 Apr 24. Rev Neurol (Paris). 2014. PMID: 24768438 Review.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A. Gros M, et al. Among authors: funalot b. Acta Paediatr. 2020 May;109(5):1060-1061. doi: 10.1111/apa.15090. Epub 2019 Dec 4. Acta Paediatr. 2020. PMID: 31721284 No abstract available.
Central nervous system complications in adult cystinosis patients.
Servais A, Saitovitch A, Hummel A, Boisgontier J, Scemla A, Sberro-Soussan R, Snanoudj R, Lemaitre H, Legendre C, Pontoizeau C, Antignac C, Anglicheau D, Funalot B, Boddaert N. Servais A, et al. Among authors: funalot b. J Inherit Metab Dis. 2020 Mar;43(2):348-356. doi: 10.1002/jimd.12164. Epub 2019 Sep 18. J Inherit Metab Dis. 2020. PMID: 31444911
96 results