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Year Number of Results
1965 1
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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 10
2022 9
2023 8
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2025 14

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120 results

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Page 1
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Among authors: steffann j. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update.
Lovell-Badge R, Anthony E, Barker RA, Bubela T, Brivanlou AH, Carpenter M, Charo RA, Clark A, Clayton E, Cong Y, Daley GQ, Fu J, Fujita M, Greenfield A, Goldman SA, Hill L, Hyun I, Isasi R, Kahn J, Kato K, Kim JS, Kimmelman J, Knoblich JA, Mathews D, Montserrat N, Mosher J, Munsie M, Nakauchi H, Naldini L, Naughton G, Niakan K, Ogbogu U, Pedersen R, Rivron N, Rooke H, Rossant J, Round J, Saitou M, Sipp D, Steffann J, Sugarman J, Surani A, Takahashi J, Tang F, Turner L, Zettler PJ, Zhai X. Lovell-Badge R, et al. Among authors: steffann j. Stem Cell Reports. 2021 Jun 8;16(6):1398-1408. doi: 10.1016/j.stemcr.2021.05.012. Epub 2021 May 27. Stem Cell Reports. 2021. PMID: 34048692 Free PMC article. Review.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: steffann j. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Rosain J, et al. Among authors: steffann j. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. J Exp Med. 2024. PMID: 39352576 Free PMC article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: steffann j. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study.
Bonnel AS, Bihouée T, Ribault M, Driessen M, Grèvent D, Foissac F, Truong NH, Benhamida M, Arnouat B, Borghese R, Chedevergne F, Couderc-Kohen L, da Silva J, Grenet D, Houdouin V, Le A, Marchal S, Deneuville E, Pouradier D, Rousseau V, Treluyer JM, Francart A, Steffann J, Reix P, Benaboud S, Mamzer MF, Ville Y, Martin C, Burgel PR, Sermet-Gaudelus I; MODUL-CF study group. Bonnel AS, et al. Among authors: steffann j. J Cyst Fibros. 2025 May;24(3):457-465. doi: 10.1016/j.jcf.2025.03.009. Epub 2025 Mar 24. J Cyst Fibros. 2025. PMID: 40133101
[Thinking about transcultural prenatal genetic counseling].
Barcia G, Monnot S, Borghese R, Bengoa J, Idris I, Steffann J. Barcia G, et al. Among authors: steffann j. Soins Pediatr Pueric. 2025 Mar-Apr;46(343):44-47. doi: 10.1016/j.spp.2025.01.011. Epub 2025 Feb 27. Soins Pediatr Pueric. 2025. PMID: 40089356 Review. French.
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G, Chemaly N, Gobin-Limballe S, Losito E, Aubart M, Sarda E, Assouline Z, Plante-Bordeneuve P, Hully M, Barrois R, Barnerias C, Sareidaki D, Zeitoun DC, Eisermann M, Fourrage C, Hanein S, Rio M, Boddaert N, Desguerre I, Kaminska A, Steffann J, Nabbout R. Barcia G, et al. Among authors: steffann j. Epilepsia Open. 2025 Aug;10(4):1065-1073. doi: 10.1002/epi4.70057. Epub 2025 May 10. Epilepsia Open. 2025. PMID: 40347095 Free PMC article.
120 results