Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19.
Am J Hum Genet. 2020.
PMID: 32197073
Free PMC article.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL.
Bolar NA, et al. Among authors: hayot g.
Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028.
Am J Hum Genet. 2016.
PMID: 27392076
Free PMC article.
Item in Clipboard
A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B, Bouameur JE, Hayot G, Latypova X, Pattabiraman S, Caillaud A, Si-Tayeb K, Besnard T, Küry S, Chariau C, Gaignerie A, David L, Bordure P, Kaganovich D, Bézieau S, Golzio C, Magin TM, Isidor B.
Cogné B, et al. Among authors: hayot g.
Eur J Hum Genet. 2020 Sep;28(9):1218-1230. doi: 10.1038/s41431-020-0583-2. Epub 2020 Feb 17.
Eur J Hum Genet. 2020.
PMID: 32066935
Free PMC article.
Item in Clipboard
Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance.
Hayot G, Massonot M, Keime C, Faure E, Golzio C.
Hayot G, et al.
Life Sci Alliance. 2022 Nov 14;6(1):e202201456. doi: 10.26508/lsa.202201456. Print 2023 Jan.
Life Sci Alliance. 2022.
PMID: 36375841
Free PMC article.
Item in Clipboard
Evaluating Toxicity of Chemicals using a Zebrafish Vibration Startle Response Screening System.
Hayot G, Marcato D, Cramer von Clausbruch CA, Pace G, Strähle U, Colbourne JK, Pylatiuk C, Peravali R, Weiss C, Scholz S, Dickmeis T.
Hayot G, et al.
J Vis Exp. 2024 Jan 12;(203). doi: 10.3791/66153.
J Vis Exp. 2024.
PMID: 38284527
Item in Clipboard
Cite
Cite