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Showing results for rouzier c
Search for Louzier C instead (3 results)
CHCHD10-Related Disorders.
Ait-El-Mkadem Saadi S, Chaussenot A, Bannwarth S, Rouzier C, Paquis-Flucklinger V. Ait-El-Mkadem Saadi S, et al. Among authors: rouzier c. 2015 Jul 1 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2015 Jul 1 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 26131548 Free Books & Documents. 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. 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.
[Familial Wolfram syndrome].
Bessahraoui M, Paquis V, Rouzier C, Bouziane-Nedjadi K, Naceur M, Niar S, Zennaki A, Boudraa G, Touhami M. Bessahraoui M, et al. Among authors: rouzier c. Arch Pediatr. 2014 Nov;21(11):1229-32. doi: 10.1016/j.arcped.2014.08.017. Epub 2014 Oct 2. Arch Pediatr. 2014. PMID: 25282462 French.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: rouzier c. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Ovarian dysgerminoma and Apert syndrome.
Rouzier C, Soler C, Hofman P, Brennetot C, Bieth E, Pedeutour F. Rouzier C, et al. Pediatr Blood Cancer. 2008 Mar;50(3):696-8. doi: 10.1002/pbc.21156. Pediatr Blood Cancer. 2008. PMID: 17243131 Review.
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.
Hermida A, Ader F, Millat G, Jedraszak G, Vogel L, Garçon L, Maury P, Fay F, Beyls C, Bréhin AC, Champ-Rigot L, Dauphin C, Dauriat B, De Groote P, Donal E, Dupin-Deguine D, Faivre L, Janin A, Jobbe Duval A, Jondeau G, Laredo M, Magnin I, Marijon E, Nguyen K, Palmyre A, Perani A, Picard F, Reant P, Richard P, Rooryck C, Roubille F, Rouzier C, Toutain A, Vernier A, Winum PF, Scarlatti D, Sacher F, Diouf M, Chevalier P, Charron P, Gandjbakhch E. Hermida A, et al. Among authors: rouzier c. Circ Heart Fail. 2025 Mar;18(3):e012492. doi: 10.1161/CIRCHEARTFAILURE.124.012492. Epub 2025 Jan 17. Circ Heart Fail. 2025. PMID: 39823286 No abstract available.
Modeling the PAX5P80R Mutation Reveals HIF2α Activation as a Common Feature and Therapeutic Target in B-cell Acute Lymphoblastic Leukemia.
Bayet M, Fregona V, Bouttier M, Rouzier C, Bigot J, Jamrog L, Hebrard S, Prade N, Lagarde S, Didier C, Gachet S, Passet M, Largeaud L, Pasquet M, Khamlichi AA, Clappier E, Delabesse E, Broccardo C, Gerby B. Bayet M, et al. Among authors: rouzier c. Cancer Res. 2025 Aug 1;85(15):2820-2837. doi: 10.1158/0008-5472.CAN-24-1698. Cancer Res. 2025. PMID: 40354631
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: rouzier c. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
66 results