Results 171 to 180 of about 103,960 (266)

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

A supported decision-making model for idiopathic pulmonary fibrosis based on feature screening and optimized neural network. [PDF]

Sci Rep
Ye H, Gong W, Yuan P, Zhang R, He B, Lin W.   +5 more
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Quality of Life in Patients With Variant Syndromes of Autoimmune Liver Diseases-A Cross-Sectional Multicentre Study. [PDF]

Liver Int
Uhlenbusch N, Snijders RJALM, Mund M, Janik MK, Milkiewicz P, Löwe B, Kroll C, Raszeja-Wyszomirska J, Gerussi A, Bolis F, Cristoferi L, Invernizzi P, Kovats P, Papp M, Grønbæk L, Grønbæk H, Tjwa ETTL, Aamann L, Ytting H, Ronca V, Olsen K, Oo YH, van der Meer AJ, Madaleno J, Canhão B, Engel B, Campos-Murguia A, Taubert R, Koc ÖM, Kramer M, Willemse JA, Lohse AW, Drenth JPH, Gevers TJG, Schramm C.   +34 more
europepmc   +1 more source

Eurocentric Bias in Dysmorphology and Medical Genetics Education

American Journal of Medical Genetics Part A, EarlyView.
D' Arcy B. Prendergast, Emma Sullivan, Michael P. Mackley, Hanna Faghfoury   +3 more
wiley   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist   +9 more
wiley   +1 more source

Correction to "Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes with SF3B1 Mutation". [PDF]

Cancer Med
europepmc   +1 more source

On the Importance of Correct Snake Identification. Comment on Chippaux et al. Snakebites in Cameroon by Species Whose Effects Are Poorly Described. <i>Trop. Med. Infect. Dis.</i> 2024, <i>9</i>, 300. [PDF]

Trop Med Infect Dis
Wüster W, Warrell DA, Williams DJ.
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source