نتائج البحث - "Fatima E. Abidi"

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

المؤلفون: Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C.E. Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J.L. Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin R. Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie R. Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, Gregory M. Cooper

المساهمون: Human Genetics, Amsterdam Cardiovascular Sciences, Human genetics, CCA - Cancer biology and immunology, HudsonAlpha Institute for Biotechnology [Huntsville, AL], Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Clinical Genetics

المصدر: American journal of human genetics, 110(2), 215-227. Cell Press
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner, M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, ' Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype ', American journal of human genetics, vol. 110, no. 2, pp. 215-227 . https://doi.org/10.1016/j.ajhg.2022.12.007
American Journal of Human Genetics
American Journal of Human Genetics, 2023, 110 (2), pp.215-227. ⟨10.1016/j.ajhg.2022.12.007⟩
American Journal of Human Genetics, 110(2), 215-227. Cell Press