Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad +10 more
wiley +1 more source
Prescription Drugs in Pregnancy and Congenital Malformations: A Population-Based Safety Screening Study. [PDF]
Broe A +6 more
europepmc +1 more source
ABSTRACT Background Eating disorders are debilitating illnesses that often co‐occur with other psychiatric disorders and somatic diseases. Evidence indicates that the incidence of eating disorders has been increasing. We first examine the landscape of EDs over time, including the COVID‐19 period, via assessing the incidence of anorexia nervosa (AN ...
Nadia Micali +4 more
wiley +1 more source
Causal links between congenital malformations, birth weight, and neuroblastoma: insights from Mendelian randomization. [PDF]
Aierken A +5 more
europepmc +1 more source
Harnessing Piezoelectric Biomaterials for Pathogenic Eradication and Tissue Regeneration
This review highlights recent advances in piezoelectric biomaterials for antibacterial therapy and tissue regeneration, discussing material classifications, catalytic mechanisms, property enhancements, biomedical applications, and future challenges in clinical translation.
Wenxuan Mao +11 more
wiley +1 more source
A comprehensive survey of congenital malformations in three governorates of Southern Iraq (Basrah, Misan, and Thi Qar), 2020-2023. [PDF]
Al-Ali AAA +3 more
europepmc +1 more source
Associated congenital malformations, syndromes, and medical conditions in patients with orofacial clefts: a 10-year hospital-based study in Thailand. [PDF]
Sangharn K +7 more
europepmc +1 more source
Abstract Objective To compare outcomes of operative hysteroscopy for intrauterine adhesions between single and multiple procedures. Methods This was a retrospective cohort in a teaching hospital including women of childbearing age treated by operative hysteroscopy for intrauterine adhesions between January 2010 and May 2020.
Cécile Bleas +4 more
wiley +1 more source
Adverse events during pregnancy, circulating metabolites, and congenital malformations: a Mendelian randomization study. [PDF]
Cheng J +8 more
europepmc +1 more source

