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Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N. Vegas N, et al. Among authors: philbert m. Eur J Med Genet. 2018 Dec;61(12):759-764. doi: 10.1016/j.ejmg.2018.09.012. Epub 2018 Sep 27. Eur J Med Genet. 2018. PMID: 30268909
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Among authors: philbert m. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert M, Maillard C, Cavallin M, Goldenberg A, Masson C, Boddaert N, El Morjani A, Steffann J, Chelly J, Gerard X, Bahi-Buisson N. Philbert M, et al. Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27. Am J Med Genet A. 2017. PMID: 27891766 No abstract available.
Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study.
Gravier-Dumonceau A, Ameli R, Rogemond V, Ruiz A, Joubert B, Muñiz-Castrillo S, Vogrig A, Picard G, Ambati A, Benaiteau M, Rulquin F, Ciron J, Deiva K, de Broucker T, Kremer L, Kerschen P, Sellal F, Bouldoires B, Genet R, Biberon J, Bigot A, Duval F, Issa N, Rusu EC, Goudot M, Dutray A, Devoize JL, Hopes L, Kaminsky AL, Philbert M, Chanson E, Leblanc A, Morvan E, Andriuta D, Diraison P, Mirebeau G, Derollez C, Bourg V, Bodard Q, Fort C, Grigorashvili-Coin I, Rieul G, Molinier-Tiganas D, Bonnan M, Tchoumi T, Honnorat J, Marignier R. Gravier-Dumonceau A, et al. Among authors: philbert m. Neurology. 2022 Feb 8;98(6):e653-e668. doi: 10.1212/WNL.0000000000013087. Epub 2021 Nov 19. Neurology. 2022. PMID: 34799461 Free PMC article.
Determination of Tetracycline, Oxytetracycline, Sulfadiazine, Norfloxacin, and Enrofloxacin in Swine Manure Using a Coupled Method of On-Line Solid-Phase Extraction with the UHPLC-DAD.
Gaballah MS, Li X, Zhang Z, Al-Anazi A, Sun H, Sobhi M, Philbert M, Ghorab MA, Guo J, Dong R. Gaballah MS, et al. Among authors: philbert m. Antibiotics (Basel). 2021 Nov 13;10(11):1397. doi: 10.3390/antibiotics10111397. Antibiotics (Basel). 2021. PMID: 34827335 Free PMC article.
185 results