Results 171 to 180 of about 954,057 (307)
Untitled #2 from Tour of Duty, 1999 [picture] /
, 2004 Title from inscription.; Published title is: "Australian Defence Force recruiting office, Darwin, Australia, 1999" in Tour of Duty.; Photographer's signature below photograph and on verso lower right.; Also available in an electronic version via the ...Sleeth, Matthew, 1972-core 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 morewiley +1 more sourceSummary of Research: Immunogenicity of Dupilumab in Adult and Pediatric Patients with Atopic Dermatitis. [PDF]
Dermatol Ther (Heidelb)Kosloski MP, Lai CH, Partridge MA, Kanamaluru V, Bansal A, Shumel B, Ardeleanu M, Yan H, Xu C, Marco AR, Xiao J, Khokhar FA, Gherardi G, Babilonia E, Akinlade B, Torri A, Davis JD. +16 moreeuropepmc +1 more sourceUntitled #9 from Tour of Duty, 2000 [picture] /
, 2004 Title from inscriptiion.; Published title is: "Medecins Sans Frontieres hospital, Baucau, 2000" in Tour of Duty.; Photographer's signature below photograph and on verso lower right.; Original photograph has been printed in reverse.; Also available in an Sleeth, Matthew, 1972-core Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023 Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash +8 morewiley +1 more sourcePCSK9 inhibition-mediated reduction in Lp(a) with evolocumab: an analysis of 10 clinical trials and the LDL receptor's role. [PDF]
J Lipid ResRaal FJ, Giugliano RP, Sabatine MS, Koren MJ, Blom D, Seidah NG, Honarpour N, Lira A, Xue A, Chiruvolu P, Jackson S, Di M, Peach M, Somaratne R, Wasserman SM, Scott R, Stein EA. +16 moreeuropepmc +1 more sourceGenome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert +41 morewiley +1 more sourceThe Insistence of Blackness and the Persistence of Antiblackness in Ireland
Australian Journal of Social Issues, EarlyView.ABSTRACT
This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force, Philomena Mullenwiley +1 more source