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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Thomas Q, et al. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. Am J Hum Genet. 2022. PMID: 36044892 Free PMC article.
Recommendations for effective documentation in regional anesthesia: an expert panel Delphi consensus project.
Ahmed HM, Atterton BP, Crowe GG, Barratta JL, Johnson M, Viscusi E, Adhikary S, Albrecht E, Boretsky K, Boublik J, Breslin DS, Byrne K, Ch'ng A, Chuan A, Conroy P, Daniel C, Daszkiewicz A, Delbos A, Dirzu DS, Dmytriiev D, Fennessy P, Fischer HBJ, Frizelle H, Gadsden J, Gautier P, Gupta RK, Gürkan Y, Hardman HD, Harrop-Griffiths W, Hebbard P, Hernandez N, Hlasny J, Iohom G, Ip VHY, Jeng CL, Johnson RL, Kalagara H, Kinirons B, Lansdown AK, Leng JC, Lim YC, Lobo C, Ludwin DB, Macfarlane AJR, Machi AT, Mahon P, Mannion S, McLeod DH, Merjavy P, Miscuks A, Mitchell CH, Moka E, Moran P, Ngui A, Nin OC, O'Donnell BD, Pawa A, Perlas A, Porter S, Pozek JP, Rebelo HC, Roqués V, Schroeder KM, Schwartz G, Schwenk ES, Sermeus L, Shorten G, Srinivasan K, Stevens MF, Theodoraki K, Turbitt LR, Valdés-Vilches LF, Volk T, Webster K, Wiesmann T, Wilson SH, Wolmarans M, Woodworth G, Worek AK, Moran EML. Ahmed HM, et al. Reg Anesth Pain Med. 2022 May;47(5):301-308. doi: 10.1136/rapm-2021-103136. Epub 2022 Feb 22. Reg Anesth Pain Med. 2022. PMID: 35193970 Free PMC article.
Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study.
Channon-Wells S, Vito O, McArdle AJ, Seaby EG, Patel H, Shah P, Pazukhina E, Wilson C, Broderick C, D'Souza G, Keren I, Nijman RG, Tremoulet A, Munblit D, Ulloa-Gutierrez R, Carter MJ, Ramnarayan P, De T, Hoggart C, Whittaker E, Herberg JA, Kaforou M, Cunnington AJ, Blyuss O, Levin M; Best Available Treatment Study (BATS) consortium. Channon-Wells S, et al. Lancet Rheumatol. 2023 Apr;5(4):e184-e199. doi: 10.1016/S2665-9913(23)00029-2. Epub 2023 Feb 14. Lancet Rheumatol. 2023. PMID: 36855438 Free PMC article.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.