Results 61 to 70 of about 2,468,352 (198)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +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

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

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

Identifying the Service Requirements for Primary Sexual Assault Medical Care and Forensic Evidence Collection in a Remote First Nations Community

Australian Journal of Social Issues, EarlyView.
ABSTRACT First Nations female sexual assault survivors in remote Northern Territory (NT) face significant barriers accessing place‐based medical care and forensic evidence collection, subsequently requiring evacuation to specialist services. Using decolonising Participatory Action Research methods, this study identified the workforce, training, and ...
Theresa Clasquin, Rachel Dikul Baker, Rosemary Gundjarranbuy, Annie Whybourne, Sue Kildea, Sue Kruske, Elaine Ḻäwurrpa Maypilama, Sarah Ireland   +7 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

An ontological morphological phylogenetic framework for living and extinct ray‐finned fishes (Actinopterygii)

The Anatomical Record, EarlyView.
Abstract The ray‐finned fishes include one out of every two species of living vertebrates on Earth and have an abundant fossil record stretching 380 million years into the past. The division of systematic knowledge of ray‐finned fishes between paleontologists working on extinct animals and neontologists studying extant species has obscured the ...
Jack Stack
wiley   +1 more source

Innervation of the tubarial glands: A hypothesis‐driven anatomical review

The Anatomical Record, EarlyView.
Abstract The tubarial glands have been described as a macroscopic bilateral glandular complex in the posterolateral nasopharynx near the torus tubarius and the pharyngeal opening of the Eustachian tube. Since their recognition on prostate‐specific membrane antigen‐based imaging, their anatomical classification has remained debated, with converging ...
Mugurel Constantin Rusu, Ivan Varga, Răzvan Costin Tudose   +2 more
wiley   +1 more source