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Year Number of Results
1947 1
1956 1
1957 1
1961 1
1964 1
1971 1
1972 4
1977 1
1978 1
1983 1
1987 3
1991 1
1995 2
1999 4
2001 2
2003 1
2004 1
2005 2
2006 8
2007 1
2008 7
2009 5
2010 5
2011 7
2012 5
2013 12
2014 4
2015 4
2016 12
2017 11
2018 12
2019 15
2020 15
2021 12
2022 9
2023 10
2024 8
2025 5

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172 results

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Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: hubert l. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Potentiating cancer immunotherapies with modular albumin-hitchhiking nanobody-STING agonist conjugates.
Kimmel BR, Arora K, Chada NC, Bharti V, Kwiatkowski AJ, Finkelstein JE, Hanna A, Arner EN, Sheehy TL, Pastora LE, Yang J, Pagendarm HM, Stone PT, Hargrove-Wiley E, Taylor BC, Hubert LA, Fingleton BM, Gibson-Corley KN, May JC, McLean JA, Rathmell JC, Richmond A, Rathmell WK, Balko JM, Wilson JT. Kimmel BR, et al. Among authors: hubert la. Nat Biomed Eng. 2025 Oct;9(10):1719-1739. doi: 10.1038/s41551-025-01400-0. Epub 2025 Jun 11. Nat Biomed Eng. 2025. PMID: 40500332 Free PMC article.
Mutations in BOREALIN cause thyroid dysgenesis.
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Carré A, et al. Among authors: hubert l. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419. Hum Mol Genet. 2017. PMID: 28025328 Free PMC article.
Molecular mechanisms of neonatal hyperinsulinism.
Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P. Giurgea I, et al. Among authors: hubert l. Horm Res. 2006;66(6):289-96. doi: 10.1159/000095938. Epub 2006 Sep 26. Horm Res. 2006. PMID: 17003566 Review.
Intraosseous metal implants in orthopedics: A review.
Rony L, Lancigu R, Hubert L. Rony L, et al. Among authors: hubert l. Morphologie. 2018 Dec;102(339):231-242. doi: 10.1016/j.morpho.2018.09.003. Epub 2018 Oct 19. Morphologie. 2018. PMID: 30348489 Review.
Transcription destabilizes triplet repeats.
Lin Y, Hubert L Jr, Wilson JH. Lin Y, et al. Among authors: hubert l jr. Mol Carcinog. 2009 Apr;48(4):350-61. doi: 10.1002/mc.20488. Mol Carcinog. 2009. PMID: 18973172 Free PMC article. Review.
Two new cases of serine deficiency disorders treated with l-serine.
Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, Kaminska A, Habarou F, Desguerre I, Van Schaftingen E, Ottolenghi C, de Lonlay P. Brassier A, et al. Among authors: hubert l. Eur J Paediatr Neurol. 2016 Jan;20(1):53-60. doi: 10.1016/j.ejpn.2015.10.007. Epub 2015 Nov 5. Eur J Paediatr Neurol. 2016. PMID: 26610677
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. Among authors: hubert l. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
172 results