Results 41 to 50 of about 99,772 (304)

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

Congenital heart defects in Kabuki syndrome

, 2013
Background: Kabuki syndrome (KS) is an entity of multiple congenital malformations withmental retardation with undetermined etiology. Congenital heart defects are one of the clinicalmanifestations of KS with insuffi cient elucidations.Methods: Literature
Yuan, Shi-Min; The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian, Fujian Province, China
core   +2 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Ascending aortic dilation and aortic regurgitation — a neglected problem among single-ventricle patients after Fontan palliation

Cardiology Journal
BACKGROUND: The Fontan procedure revolutionized the management of univentricular heart physiology but is associated with long-term complications. Although pulmonary vascular disease, atrioventricular valve regurgitation, and ventricular dysfunction are ...
Małgorzata Kowalczyk, Ilona Kowalik, Mirosław Kowalski, Piotr Hoffman   +3 more
doaj   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population [PDF]

Introduction: Congenital heart defects (CHDs) are the most common congenital anomaly of the newborn with high mortality and morbidity rates. Genetic and environmental risk factors have affect on cardiogenesis.
Turkyilmaz, Ayberk, Geckinli, Bilgen Bilge, Şenol Demir, Demir, Senol, Figen Akalın, Ozgumus, Gozde Girgin, AKALIN, FİGEN, Ayberk Türkyilmaz, Bilgen Bilge Geçkinli, Gözde Girgin Özgümüş   +9 more
core   +1 more source

Bridging clinical care and lived experience: early implementation of longitudinal health-related quality of life monitoring in congenital heart disease

Frontiers in Pediatrics
BackgroundCongenital heart defects (CHD) are the most common congenital malformations, and, although survival rates now exceed 90%, children remain at risk for long-term psychomotor, cognitive, and psychosocial difficulties.
Jana Willems, Philipp A. Müller, Anna Erbers, Franziska Renninger, Alina Stricker, Vera König, Rouven Kubicki, Hannah E. Kappler, Alexej Bobrowski, Brigitte Stiller, Christoph Zürn   +10 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Types of congenital heart defects included in this study.

, 2020
Types of congenital heart defects included in this study.
Basky Thilaganathan (6207257), Julia Binder (397539), Erkan Kalafat (6207248), Julene S. Carvalho (8407716), Asma Khalil (371837), Silvia Carta (6801110)   +5 more
core   +1 more source

CONGENITAL HEART DEFECTS, EXAMINATION METHODS AND MANAGEMENT TACTICS IN THE NEONATAL PERIOD

, 2021
The article under discussion reveals congenital heart defects examination methods and management tactics in the neonatal period. The authors of the article consider that the right standard for congenital heart defects diagnosis is the echo-CG and the ...
Akramov Firdavs Feruzkhon ugli, Tishabaeva Nargiza Alimdjanovna   +1 more
core   +1 more source