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Page 1
Molecular analysis of 53 fragile X families with the probe StB12.3.
Puissant H, Malinge MC, Larget-Piet A, Martin D, Chauveau P, Odent S, Plessis G, Parent P, Lemarec B, Larget-Piet L. Puissant H, et al. Among authors: martin d. Am J Med Genet. 1994 Dec 1;53(4):370-3. doi: 10.1002/ajmg.1320530413. Am J Med Genet. 1994. PMID: 7864047
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Margot H, et al. Among authors: martin d. Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363182 Free article.
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T. Tabet AC, et al. Among authors: martin d. NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. NPJ Genom Med. 2017. PMID: 29263841 Free PMC article.
Increased functional potency of multi-edited CAR-T cells manufactured by a non-viral transfection system.
O'Sullivan A, Case S, McCrudden A, Hackett E, Gallagher L, Martin D, Johnson GP, Mahadik K, Kienzle T, Lim JK, Nashat A, Srinivasan K, Lowdell MW, O'Flynn L, Frankish J. O'Sullivan A, et al. Among authors: martin d. Mol Ther Methods Clin Dev. 2024 Dec 5;33(1):101389. doi: 10.1016/j.omtm.2024.101389. eCollection 2025 Mar 13. Mol Ther Methods Clin Dev. 2024. PMID: 39811687 Free PMC article.
The MyLungHealth study protocol: a pragmatic patient-randomised controlled trial to evaluate a patient-centred, electronic health record-integrated intervention to enhance lung cancer screening in primary care.
Kukhareva P, Balbin C, Stevens E, Mann D, Tiase V, Butler J, Del Fiol G, Caverly T, Kaphingst K, Schlechter CR, Fagerlin A, Li H, Zhang Y, Hess R, Flynn M, Reddy C, Warner P, Choi J, Martin D, Nanjo C, Metzger Q, Kawamoto K. Kukhareva P, et al. Among authors: martin d. BMJ Open. 2024 Dec 22;14(12):e087056. doi: 10.1136/bmjopen-2024-087056. BMJ Open. 2024. PMID: 39806641 Free PMC article.
9,268 results