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Page 1
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: drouin v. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. de Pontual L, et al. Among authors: drouin v. Nat Genet. 2011 Sep 4;43(10):1026-30. doi: 10.1038/ng.915. Nat Genet. 2011. PMID: 21892160 Free PMC article.
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frébourg T. Jacquet H, et al. Among authors: drouin v. Hum Mol Genet. 2002 Sep 15;11(19):2243-9. doi: 10.1093/hmg/11.19.2243. Hum Mol Genet. 2002. PMID: 12217952
[Langerhans-cell histiocytosis in twin sisters].
Kanold J, Vannier JP, Fusade T, Drouin V, Thomine E, Prudent M, Tron P. Kanold J, et al. Among authors: drouin v. Arch Pediatr. 1994 Jan;1(1):49-53. Arch Pediatr. 1994. PMID: 8087220 French.
[Nephroblastoma and fragile X syndrome].
Drouin V, Vannier JP, Moirot H, Mitrofanoff P, Tron P. Drouin V, et al. Arch Fr Pediatr. 1992 May;49(5):477. Arch Fr Pediatr. 1992. PMID: 1326936 French. No abstract available.
A dynamic mid-crustal magma domain revealed by the 2023 to 2024 Sundhnúksgígar eruptions in Iceland.
Matthews SW, Caracciolo A, Bali E, Halldórsson SA, Sigmarsson O, Guðfinnsson GH, Pedersen GBM, Robin JG, Marshall EW, Aden AA, Gísladóttir BÝ, Bosq C, Auclair D, Merrill H, Levillayer N, Löw N, Rúnarsdóttir RH, Johnson SM, Steinþórsson S, Drouin V. Matthews SW, et al. Among authors: drouin v. Science. 2024 Oct 18;386(6719):309-314. doi: 10.1126/science.adp8778. Epub 2024 Sep 26. Science. 2024. PMID: 39325865
17 results