Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca C. Yeh"'
Autor:
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer
Publikováno v:
American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143
Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226
Autor:
Darius, Ebrahimi-Fakhari, Julian E, Alecu, Marvin, Ziegler, Gregory, Geisel, Catherine, Jordan, Angelica, D'Amore, Rebecca C, Yeh, Shyam K, Akula, Afshin, Saffari, Sanjay P, Prabhu, Mustafa, Sahin, Edward, Yang, Conny M A, van Ravenswaaij-Arts
Publikováno v:
Neurology
Background and ObjectivesAP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary spastic paraplegia and mimic of cerebral palsy. This study aims to define the spectrum of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfcacb2aaf18a724159e2e69ac27c77
https://pubmed.ncbi.nlm.nih.gov/34544818
https://pubmed.ncbi.nlm.nih.gov/34544818
Autor:
Connor J. Kenny, Ellen M DeGennaro, Andrew B. Stergachis, Lariza M. Rento, Marc Beaudin, M. Aurel Nagy, Peter P. Wang, Kelly M. Girskis, Taehwan Shin, Michael E. Greenberg, Elizabeth A. Pollina, Peter V. Kharchenko, Ryan N. Doan, Julia L. Scotellaro, Xuyu Qian, Nenad Sestan, Jean Fan, Brian M. Debo, Janet H.T. Song, Dilenny M. Gonzalez, André M. M. Sousa, Rebecca C. Yeh, Christopher A. Walsh, Matthew B. Johnson, Gabrielle M. Sejourne
Publikováno v:
Neuron. 109(20)
Summary Human accelerated regions (HARs) are the fastest-evolving regions of the human genome, and many are hypothesized to function as regulatory elements that drive human-specific gene regulatory programs. We interrogate the in vitro enhancer activ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec719659af0fbbd154432819136f29cc
https://pubmed.ncbi.nlm.nih.gov/34672980
https://pubmed.ncbi.nlm.nih.gov/34672980