Results 181 to 190 of about 4,928,095 (257)

Cover ASSETS: JAP Vol 8, No 2 (2019)

, 2018
Jurnal Akuntansi dan Pendidikan, Assets
core   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

NMRhub: An NMR Data Ecosystem Spanning the Complete Data Lifecycle. [PDF]

J Mol Biol
Maciejewski MW, Baskaran K, Yao H, Eghbalnia H, Kurisu G, Yokochi M, Schuyler AD, Bontempi C, Wedell JR, Weatherby G, Burr H, Pustovalova Y, Pozhidaeva A, Thongdee S, Gryk MR, Courtney JM, Cheng Q, Wilson MP, Moraru II, Simon B, Byrd RA, Morris L, Glushka JN, Grimes JH, Uchimiya M, Eletsky A, Moore AE, Paterson AL, Wang S, Pinheiro PR, Vanderloop B, Livny M, Henzler-Wildman K, Edison AS, Rienstra CM, Hoch JC.   +35 more
europepmc   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

How Can Community Music Enhance Place‐Based Efforts to Create Greater Social Equity? Insights From an Australian Cultural Mapping Exercise

Australian Journal of Social Issues, EarlyView.
ABSTRACT Social inequity is increasing in Australia, often manifesting in entrenched locational disadvantage that requires place‐based responses grounded in local strengths, knowledge and participation. While community music programmes have demonstrated a range of positive social outcomes, their potential contribution to place‐based efforts addressing ...
Brydie‐Leigh Bartleet, Emma Heard, Matt Hsu, Mathew Klotz, Chi Lui Flora Wong, Joel Alexander Spence, Pearly Black   +6 more
wiley   +1 more source

A defensive model and implementation baseline for the metaverse and extended reality systems. [PDF]

PeerJ Comput Sci
Qamar S, Tahir H, Anwar Z, Ahmed N, Tahir S, Aleem M.   +5 more
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

Animal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu, Tingting Liu, Xiangshu Cheng, Jianshe Wei   +3 more
wiley   +1 more source

Virtual Reality-Based Training in Radiologic Technology for Contrast-Enhanced Computed Tomography Brain Imaging: Randomized Controlled Trial. [PDF]

JMIR Form Res
Cheewakul J, Ina N, Kanpanluek P, Khamruang Marshall S, Chaichulee S.   +4 more
europepmc   +1 more source

Cover ASSETS: JAP Vol 3, No 1 (2014)

, 2014
Jurnal Akuntansi dan Pendidikan, Assets
core   +1 more source