Kate M. Crowther, Thibault R. H. Jouen-Tachoire, Peter Proks, Peter Rory Hall, Emma L. Veale, Janina Sörmann, Karin E. J. Rödström, Thomas Müller, Saskia B. Wortmann, Nina Barisic, Natalie Hauser, Vincenzo Salpietro, RaeLynn Forsyth, Linford Williams, Nora Derrabi, Carlos A. Bacino, Jill A. Rosenfeld, Henry Houlden, Simon Newstead, Caroline F. Wright, James Fasham, Alistair A. […]
Meng-Jie Zhang, Ya-Cong Bo, Jun-Zhuo Shi, Ming-Dan Xu, Xiang-Ying Suo, Cui-Cui Chen, Meng-Tong Xu, Lu-Ling Zhao, Hong-Da Zhang, Jie-Jian Kou, Xin-Mei Xie, Xiao-Bin Pang, Yong-Jian Zhu, Yi Yan, Yang-Yang HeHenan University and Huaihe Hospital. Zhengzhou University and First Affiliated Hospital of Zhengzhou University. Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences & Peking Union Medical College. Shanghai Children’s Medical Center and Shanghai Jiao Tong University
Khalifah A. Aldawsari, Steven H. Abman, David Badesch, David Dunbar IvyUniversity of Colorado Anschutz Medical School and Children’s Hospital Colorado. United States Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70378 AbstractNeonates and infants with FOXF1 mutation develop alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), which is typically considered a uniformly fatal neonatal lung disorder due
Shaina M. Willen, Ann M. Brunson, Oyebimpe O. Adesina, Ted WunUniversity of California Davis. United States American Journal of HematologyAm J Hematol 2026; DOI: 10.1002/ajh.70459 AbstractSickle cell disease (SCD), a monogenic disorder, exhibits variable severity due to genetic and environmental modifiers. Prior studies have proposed hemolytic and vaso-occlusive sub-phenotypes based on limited data. We used latent
Emmanouil Mavrogiannis, Rebeca Weldeghebreal, Iris R. Schilthuis, Zain K. Fal, Niels J. Kloosterhuis, Mirjam H. Koster, Wim Timens, Johannes M. Douwes, Rolf M. F. Berger, Marit WesterterpBeatrix Children’s Hospital, University Medical Center Groningen and University of Groningen. Netherlands Pulmonary CirculationPulm Circ 2026; 16: DOI: 10.1002/pul2.70354 AbstractPulmonary arterial hypertension (PAH) is a progressive vasculopathy leading to right-sided
Mariama Touray, Magalie Ladouceur, Judith Bouchardy, Markus Schwerzmann, Matthias Greutmann, Daniel Tobler, Reto Engel, Harald Gabriel, Caroline Blanche, Etienne Pruvot, Nicole Sekarski, Tobias RutzLausanne University Hospital, University of Lausanne. Hôpital Européen Georges Pompidou, Hôpitaux de Paris and Paris-Saclay University. University Hospitals of Geneva. University of Bern. University of Zurich. University Hospital of Basel and University
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Mehmet Kucuk, Jenny E. Zablah, Gregory Fleming, Dennis Vanloozen, Oliver Aregullin, Konstantin Averin, Mark H. Hoyer, Mark A. Law, James A. Kuo, Ryan Leahy, Christopher Iskander, Gareth J. MorganChildren’s Hospital Colorado. Duke University Medical Center. Cook Children’s Medical Center. Spectrum Health Helen DeVos Children’s Hospital. Cohen Children’s Medical Center. Riley Hospital for Children and Indiana
Jun-Zhuo Shi, Jing-Song Ye, Xiao-Rui An, Guo Cheng, Xin Fan, Fang-Fang Meng, Ou Yang, Yang-Han-Yue Zhou, Meng-Jie Zhang, Tian-Yi Yuan, Yi Yan, Yang-Yang HeHuaihe Hospital and Henan University. Shanghai Children’s Medical Center and Shanghai Jiao Tong University School of Medicine. Chinese Academy of Medical Sciences and Peking Union Medical College. Pharmacology and TherapeuticsPharmacol Ther 2026;
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Mathilde Gras, Gaelle Quentin-Romand, Nicole Chemaly, Giulia Barcia, KCNT1 consortium and Rima NabboutNecker Enfants Malades Hospital and Université Paris Cité. France Brain CommunicationsBrain Commun 2026; 8: DOI: 10.1093/braincomms/fcag256 AbstractThe KCNT1 gene encodes for a sodium-activated potassium channel involved in neuronal excitability. Since its initial description in 2012 in patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
Expanding the phenotypic and genotypic spectrum of KCNT1-related epilepsies Read More »
Hariballav Mahapatra, Pankaj Banotra, Anand Sekar G, Jignesh Sharma, Sharat Vishwanath K, Dinesh TripathiSevayan Diabetes Centre. Sri Jayadeva Institute of Cardiovascular Sciences. Aarupadai Veedu Medical College and Vinayaka Missions Research Foundation. Mansarovar Medical College. Bhopal Memorial Hospital and Research Centre of Bhopal Nursing College. Subharti Medical College.India CureusCureus 2026; 18: DOI: 10.7759/cureus.110938 AbstractCardiovascular diseases remain the
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