Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anika Lindsey"'
Autor:
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Publikováno v:
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
BackgroundKinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo
Externí odkaz:
https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06
Publikováno v:
Echocardiography
BACKGROUND: Heart failure (HF) complicating acute coronary syndrome (ACS) is a herald of adverse outcomes. In this systematic review, we investigated the prevalence of lung ultrasound (LUS) findings and their prognostic utility among patients with AC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2b087395b8f964f248e73c65067319
https://europepmc.org/articles/PMC8903063/
https://europepmc.org/articles/PMC8903063/
Autor:
Mark P. Gorman, Alice Leclercq-Blondel, Shino Shimada, Tim Schedl, Stephen C. Pak, Sonia El Mouridi, Thomas Boulin, Gary A. Silverman, Anika Lindsey, May Christine V. Malicdan, Marie Gendrel, Omar Itani, Ariane Soldatos, Darian Turner, Ellen Macnamara, Dustin Baldridge, Jennifer L. Murphy
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩
Molecular Genetics and Metabolism, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩
Molecular Genetics and Metabolism, Elsevier, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩
Molecular Genetics and Metabolism, 2021, ⟨10.1016/j.ymgme.2021.07.013⟩
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated with neurodevelopmental delay and childhood epilepsy. Here, we report on a novel NBEA missense variant (c.5899G > A, p.Gly196
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1cf147c9956ae858eb4251728523cb
https://hal.archives-ouvertes.fr/hal-03357611
https://hal.archives-ouvertes.fr/hal-03357611