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2005 1
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Page 1
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: goyette ae. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L. Bruel AL, et al. Among authors: goyette am. Eur J Hum Genet. 2022 Jan;30(1):111-116. doi: 10.1038/s41431-021-00985-9. Epub 2021 Oct 28. Eur J Hum Genet. 2022. PMID: 34707297 Free PMC article.
Sex-Based Differences in IBD Surgical Outcomes.
Sundel MH, Newland JJ, Blackburn KW, Vesselinov RM, Eisenstein S, Bafford AC; NSQIP-IBD Collaborative. Sundel MH, et al. Dis Colon Rectum. 2024 Feb 1;67(2):246-253. doi: 10.1097/DCR.0000000000002984. Epub 2023 Oct 23. Dis Colon Rectum. 2024. PMID: 37878462
Co-Constructing a Community-Based Telemedicine Program for People With Opioid Use Disorder During the COVID-19 Pandemic: Lessons Learned and Implications for Future Service Delivery.
Høj SB, de Montigny C, Chougar S, Léandre R, Beauchemin-Nadeau MÈ, Boyer-Legault G, Goyette A, Lamont SK, Bruneau J. Høj SB, et al. Among authors: goyette a. JMIR Public Health Surveill. 2023 Jul 26;9:e39236. doi: 10.2196/39236. JMIR Public Health Surveill. 2023. PMID: 37494097 Free PMC article.
23 results