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Page 1
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L. Valence S, et al. Among authors: bednarek n. Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997391 Free article.
Multiscale brain MRI super-resolution using deep 3D convolutional networks.
Pham CH, Tor-Díez C, Meunier H, Bednarek N, Fablet R, Passat N, Rousseau F. Pham CH, et al. Among authors: bednarek n. Comput Med Imaging Graph. 2019 Oct;77:101647. doi: 10.1016/j.compmedimag.2019.101647. Epub 2019 Aug 14. Comput Med Imaging Graph. 2019. PMID: 31493703
An unusual case of methyl bromide poisoning.
Hoizey G, Souchon PF, Trenque T, Frances C, Lamiable D, Nicolas A, Grossenbacher F, Sabouraud P, Bednarek N, Motte J, Millart H. Hoizey G, et al. Among authors: bednarek n. J Toxicol Clin Toxicol. 2002;40(6):817-21. doi: 10.1081/clt-120015841. J Toxicol Clin Toxicol. 2002. PMID: 12475194
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Ker… See abstract for full author list ➔ Jacquemont S, et al. Among authors: bednarek n. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
[Neuroimaging in pediatric epilepsy].
Trichard M, Léautaud A, Bednarek N, Mac-Caby G, Cardini-Poirier S, Motte J, Hoeffel C. Trichard M, et al. Among authors: bednarek n. Arch Pediatr. 2012 May;19(5):509-22. doi: 10.1016/j.arcped.2012.02.022. Epub 2012 Apr 4. Arch Pediatr. 2012. PMID: 22480465 French.
[Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome].
Ezzeddine H, Sabouraud P, Eschard C, El Tourjuman O, Bednarek N, Motte J. Ezzeddine H, et al. Among authors: bednarek n. Arch Pediatr. 2005 Feb;12(2):173-5. doi: 10.1016/j.arcped.2004.11.021. Arch Pediatr. 2005. PMID: 15694543 French.
RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Zagaglia S, Steel D, Krithika S, Hernandez-Hernandez L, Custodio HM, Gorman KM, Vezyroglou A, Møller RS, King MD, Hammer TB, Spaull R, Fazeli W, Bartolomaeus T, Doummar D, Keren B, Mignot C, Bednarek N, Cross JH, Mallick AA, Sanchis-Juan A, Basu A, Raymond FL, Lynch BJ, Majumdar A, Stamberger H, Weckhuysen S, Sisodiya SM, Kurian MA. Zagaglia S, et al. Among authors: bednarek n. Neurology. 2021 Mar 16;96(11):e1539-e1550. doi: 10.1212/WNL.0000000000011543. Epub 2021 Jan 27. Neurology. 2021. PMID: 33504645 Free PMC article.
100 results