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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Brain. 2022 Nov 21;145(11):3770-3775. doi: 10.1093/brain/awac280.
Brain. 2022.
PMID: 35883251
MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF.
Baux D, et al. Among authors: ardouin o.
Eur J Hum Genet. 2021 Feb;29(2):356-360. doi: 10.1038/s41431-020-00755-z. Epub 2020 Nov 7.
Eur J Hum Genet. 2021.
PMID: 33161418
Free PMC article.
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Correction: MobiDetails: online DNA variants interpretation.
Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF.
Baux D, et al. Among authors: ardouin o.
Eur J Hum Genet. 2021 Feb;29(2):361. doi: 10.1038/s41431-020-00789-3.
Eur J Hum Genet. 2021.
PMID: 33303978
Free PMC article.
No abstract available.
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Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
Yauy K, Van Goethem C, Pégeot H, Baux D, Guignard T, Thèze C, Ardouin O, Roux AF, Koenig M, Bergougnoux A, Cossée M.
Yauy K, et al. Among authors: ardouin o.
Int J Mol Sci. 2023 Apr 15;24(8):7330. doi: 10.3390/ijms24087330.
Int J Mol Sci. 2023.
PMID: 37108493
Free PMC article.
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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Wells CF, Boursier G, Yauy K, Ruiz-Pallares N, Mechin D, Ruault V, Tharreau M, Blanchet P, Pinson L, Coubes C, Fila M, Baleine J, Pidoux O, Badr M, Milesi C, Cambonie G, Mesnage R, Dereure M, Ardouin O, Guignard T, Geneviève D, Barat-Houari M, Willems M.
Wells CF, et al. Among authors: ardouin o.
Eur J Hum Genet. 2022 Sep;30(9):1076-1082. doi: 10.1038/s41431-022-01133-7. Epub 2022 Jun 22.
Eur J Hum Genet. 2022.
PMID: 35729264
Free PMC article.
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Kallmann syndrome.
Hardelin JP, Soussi-Yanicostas N, Ardouin O, Levilliers J, Petit C.
Hardelin JP, et al. Among authors: ardouin o.
Adv Otorhinolaryngol. 2000;56:268-74. doi: 10.1159/000059073.
Adv Otorhinolaryngol. 2000.
PMID: 10868244
Review.
No abstract available.
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Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.
Soussi-Yanicostas N, Hardelin JP, Arroyo-Jimenez MM, Ardouin O, Legouis R, Levilliers J, Traincard F, Betton JM, Cabanié L, Petit C.
Soussi-Yanicostas N, et al. Among authors: ardouin o.
J Cell Sci. 1996 Jul;109 ( Pt 7):1749-57. doi: 10.1242/jcs.109.7.1749.
J Cell Sci. 1996.
PMID: 8832397
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Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome.
Ardouin O, Legouis R, Fasano L, David-Watine B, Korn H, Hardelin J, Petit C.
Ardouin O, et al.
Mech Dev. 2000 Jan;90(1):89-94. doi: 10.1016/s0925-4773(99)00222-1.
Mech Dev. 2000.
PMID: 10585565
Free article.
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