Results 81 to 90 of about 6,747 (269)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Jara: typeface design

, 2012
This research for the design of a typeface for popular visual communication across greater distance was undertaken for the International Typeface Design Competition in Tokyo, Japan, operated by The Morisawa Corporation.
Donaldson, Timothy
core  

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

TRT–Custom Typeface Design Project [PDF]

TRT is a custom typeface design project which was commissioned by Turkey's national broadcasting channel, TRT, (Türkiye Radyo Televizyon Kurumu) through TBWA / Istanbul global ad agency.
Yazıcıgil, Onur, Öğmen, Didem
core  

Australian Activists as Storytellers in Digital Spaces: Acquiring Skills, Producing Content and Getting the Message Out

Australian Journal of Social Issues, EarlyView.
ABSTRACT As modes of activism rapidly evolve, activists—both seasoned and emerging—must increasingly navigate a hybrid terrain of both digital and non‐digital engagement. This paper draws on the personal narratives of 16 nascent activists based in Australia to explore how they develop competencies related to digital storytelling, which is critical to ...
Garth Stahl, Miri Yemini, Claire Maxwell, Yating Hu, Benjamin Adams, Sarah Bergen   +5 more
wiley   +1 more source

Kariri Indians: the graphics of the artifact for the creation of a digital typeface

Projetica, 2017
This work is a brief historical study of the Kariri Indians – including their myths, legends and pottery art fragments – in addition to the bibliographic and visual research of typographic characters.
Rosemary Severo da Silva, Aglaíze Damasceno Levy   +1 more
doaj   +1 more source

Women typeface designers

, 1997
Nowhere is there a single, exclusive publication containing biographies, type specimens, and photographs of the many women typeface designers. From source to source, one will usually find the same names of male typeface designers repeated.
Webber, Laura
core  

Endothermy, neuron counts, and other issues: Further remarks on neurocognitive evolution in fossil vertebrates

The Anatomical Record, EarlyView.
Abstract Last year, we challenged the view that large‐bodied theropod dinosaurs such as Tyrannosaurus rex resembled primates in cognition and behavior, a proposition made by Herculano‐Houzel in 2023. More recently, Jensen et al. have criticized our work on this topic, raising methodological and conceptual issues.
Kai R. Caspar, Cristián Gutiérrez‐Ibáñez, Hady George, Thomas R. Holtz Jr., Darren Naish, Grant R. Hurlburt   +5 more
wiley   +1 more source

Marine Debris Typeface @ HOMEMADE Exhibition – Newlyn Art Gallery

HOMEMADE is an exhibition of film, photography and live performance focussing on themes of identity, memory and place. HOMEMADE was a multimedia collaboration between artists, writers, photographers, performers, filmmakers and musicians from Cornwall,
Star, Dion
core  

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source