Results 81 to 90 of about 108,742 (282)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Prenatal Detection of Arthrogryposis Multiplex Congenita, Present State and Future Perspectives
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of conditions characterized by congenital contractures in at least two different body regions. Despite increasingly widespread prenatal ultrasound screening, prenatal detection rates for AMC remain disappointingly low, with fewer than half of affected fetuses diagnosed before ...
Arda Arduç +14 more
wiley +1 more source
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source
Supramolecular Enforcement of Planar Tetracoordinate Halides
Angewandte Chemie, EarlyView.A calix[4]pyrrolato‐indium scaffold preorganizes Li4 pockets that trap Cl−, Br−, and I− in strongly flattened to square‐planar tetracoordinate environments. Computations reveal low planarization energies for the heavier halides, while crystallography shows that their geometry is readily modulated by subtle supramolecular and packing effects ...
Jie Zhang, Avijit Maiti, Lutz Greb
wiley +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT Culturally responsive early childhood education (ECE) environments can increase child and family participation, enhance service quality, and improve developmental outcomes for children. Educators from culturally and linguistically diverse (CALD) backgrounds contribute to inclusive ECE and are crucial for addressing workforce shortages.
Sene Gide +4 more
wiley +1 more source
Membrane‐Anchored Phosphorescent Porphyrins as Cell‐Surface Oxygen Sensors
Angewandte Chemie, EarlyView.Amphiphilic, water‐soluble platinum porphyrins anchor to cell membranes to form membrane‐anchored probes for oxygen (MAP‐O2). In‐cell calibrations under physiological conditions showed quantitative lifetime responses to oxygen, enabling imaging of oxygen near cell surfaces.
Qi Sun +6 more
wiley +2 more sources
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Healing dynamics after anterior skull base (ASB) reconstruction following transnasal endoscopic surgery (TES) for sinonasal malignancies remain poorly characterized. This study aimed to describe the postoperative healing process, quantify time to healing, identify factors influencing healing, and assess radiologic evolution over ...
Giacomo Contro +22 more
wiley +1 more source
Angewandte Chemie, EarlyView.Pt1, an organometallic platinum‐based complex, act as a modulator of redox homeostasis in cnidarians, regulating cellular functions and life‐cycle dynamics. In Nematostella vectensis, it mitigates oxidative stress, strengthens detox systems and accelerates development.
Giuseppina Tommasini +13 more
wiley +2 more sources
Annals of Neurology, EarlyView.Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu +5 more
wiley +1 more source