Results 141 to 150 of about 1,299,566 (260)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Carta 42

, 2016
Escribe Caldas, en una importante carta que dirige a José Celestino Mutis y en que resume sus estudios p. 115. «Por fortuna [en San Francisco] le tocó un catedrático ilustrado [Restrepo], que detestaba esa jerga escolástica [...] se aplicó bajo su ...
Caldas, Francisco José de
core  

A Global Prospective Harmonization Framework for Suicidality, Anhedonia, and Obsessive‐Compulsive Symptoms in Psychiatric Genetic Studies: A Cross‐Continental Study Within the Ancestral Population Network

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT This study aims to prospectively collect harmonized, quantitative, and dimensional psychiatric phenotypes (suicidality, anhedonia, and obsessive‐compulsive symptoms) and information on discrimination, stigma, and unfair treatment in up to 27,500 individuals across diverse ancestries and clinical populations for genetic analysis within the NIMH
Ana M. Diaz‐Zuluaga, Jacey L. Anderberg, Ana M. Ramirez‐Diaz, Andrea Horvath Marques, Catherine E. Rast, Daniel Bustamante, Deborah Jonker, Johanna Valencia‐Echeverry, Joseph Kyebuzibwa, Josselyn S. Muñoz, Kristien van der Walt, Mauricio Castaño Ramirez, Olivia Wootton, Renee M. Frederick, Rocky E. Stroud II, Ruben Gur, Sang Jin Rhee, Shaili C. Jha, Stella Gichuru, Susan Service, Victor I. Reus, Akena Dickens, Carlos Lopez‐Jaramillo, Carrie E. Bearden, Dan J. Stein, Ezra S. Susser, James J. Crowley, Jonathan Flint, Kenneth S. Kendler, Lukoye Atwoli, Michele T. Pato, Nelson B. Freimer, Roel A. Ophoff, Yong Min Ahn, Loes Olde Loohuis, Eric A. Storch, Bizu Gelaye   +36 more
wiley   +1 more source

Localized Accumulation of Tri‐n‐Propylamine Prolongs Electrochemiluminescence for Tumor Model Spheroid Analysis

Angewandte Chemie, EarlyView.
Here, we enhance the electrochemiluminescence imaging of cellular spheroids using [Ru(bpy)3]2+/TPrA chemistry. Our strategy, which involves pre‐incubation with TPrA, enables high‐resolution, long‐term visualization of cellular spheroids without phototoxicity.
Vanshika Gupta, Megan L. Hill, Samuel P. Nortz, Yashvi Choudhary, Ashutosh Rana, Jeffrey E. Dick   +5 more
wiley   +2 more sources

Will non-invasive methods replace bone biopsy in patients with chronic kidney disease? [PDF]

J Bras Nefrol
Araujo DSG, Lobo Filho CO, Barbosa FR.
europepmc   +1 more source

[Dicurso de Francisco Orlich]

, 1962
Intérpretes: Gregorio Marañón Moya, Presidente ICH. Francisco José Orlich Bolmarcich, Presidente de Costa RicaMin. 0.19: Discurso de presentación de Gregorio Marañón -- Min.
Instituto de Cultura Hispánica (España), Orlich Bolmarcich, Francisco José, Marañón Moya, Gregorio, 1914-2002   +2 more
core  

Owning Home, Finding Belonging: Relational Meanings of Homeownership for Migrant Healthcare Workers in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT Migrant healthcare workers in Australia find themselves at the centre of three intersecting concerns, often presented as ‘crises’ in contemporary discourse: the ‘care crisis’, the ‘housing crisis’ and the ‘migration crisis.’ Yet their own perspectives on these issues are rarely foregrounded. This paper explores the role of homeownership in the
Leah Williams Veazey
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

BJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester, N. Starr, T. Negussie, D. Schaps, M. Adem, S. Alemu, D. Amenu, N. Gebeyehu, T. Habteyohannes, F. Jiru, A. Tesfaye, E. Wayessa, R. Chen, A. Trickey, S. Bitew, A. Bekele, T. G. Weiser   +16 more
wiley   +1 more source

Defect‐Guided Assembly of Aperiodic and Flexible Metal–Organic Frameworks From Pre‐Formed Cages

Angewandte Chemie, EarlyView.
A cage‐directed strategy is used to program topologically correlated defects and induce aperiodicity in HKUST‐1‐type MOFs. A missing carboxylate group in the linker drives the formation of Cu‐vacancy domains, while Rh(II) cages spatially confine these defects.
Francisco Sánchez‐Férez, Akim Khobotov‐Bakishev, Borja Ortín‐Rubio, Cornelia von Baeckman, Laura Hernández‐López, Alba Cortés‐Martínez, Robert A. I. Paraoan, Roberto Boada, Judith Juanhuix, Felipe Gándara, Andrew L. Goodwin, Arnau Carné‐Sánchez, Daniel Maspoch   +12 more
wiley   +2 more sources

Correction to: Isolation and characterization of Toxoplasma gondii isolates from human congenital toxoplasmosis cases reveal a new virulent genotype in São Paulo, Brazil. [PDF]

Parasitol Res
Meireles L, Bezerra ECM, Andrade JQ, Cassiano LA, Pena HFJ, Alves BF, Francisco RPV, de Andrade HF.   +7 more
europepmc   +1 more source