Results 241 to 250 of about 31,520 (324)

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source

Early pacing in a child with Lodder-Merla syndrome and progressive sinus node dysfunction: a case report. [PDF]

Eur Heart J Case Rep
AlAraibi AJ, Shakeeb FN, Bhat A, Husain F, Kalis NN.   +4 more
europepmc   +1 more source

Oral Acute Toxicity and Genotoxicity of Heteroctenus junceus Scorpion Venom

Veterinary Medicine and Science, Volume 12, Issue 2, March 2026.
The Heteroctenus junceus scorpion venom is a very popular natural extract used in traditional medicine in Cuba. In clinically relevant experimental settings, scorpion venom does not induce general toxicity or an increase in the frequency of micronucleus formation in erythrocytes.
Alexis Díaz‐García, Jenny Laura Ruiz‐Fuentes, Sophia Mejias Medina, Nicolas Zapata Guajardo, Christian Ross Skarneo   +4 more
wiley   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

Nanoparticles‐Mediated Modulation of TRP Channels: Advances and Therapeutic Potential

WIREs Nanomedicine and Nanobiotechnology, Volume 18, Issue 2, March/April 2026.
Nanoparticle‐mediated modulation of TRP channels, highlighting the interplay between external stimuli, tailored nanomaterials, and TRP channel activation across a range of physiological contexts. This review examines the roles of TRP channels in cellular signaling and disease, providing insights into how advances in nanotechnology can facilitate ...
Karina A. Foster, Noy Midler, Ori Shine, Dekel Rosenfeld   +3 more
wiley   +1 more source

Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report. [PDF]

Prog Rehabil Med
Mathews E, Goyal V, Mhambre A, Gaur AK.
europepmc   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +1 more source

Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases

Histopathology, Volume 88, Issue 4, Page 922-927, March 2026.
Introduction Myofibromas are part of the pericytic tumour family, which includes myopericytomas, glomus tumours and angioleiomyomas. While they typically display benign behaviour when arising in the skin and subcutaneous tissues of the head and neck, rare aggressive variants have been reported, particularly those with visceral or intracranial ...
Irena Antonia Ungureanu, Megane Le Quang, Rihab Azmani, Marie Ancelle, Henri Margot, Guillaume Chotard, François Le Loarer, Nathalène Truffaux   +7 more
wiley   +1 more source