Results 171 to 180 of about 5,870 (232)
International Journal of Gynecology &Obstetrics, Volume 174, Issue 1, Page 229-234, July 2026.Abstract Introduction Pre‐eclampsia (PE) involves systemic endothelial dysfunction and microvascular injury, yet routine obstetric care lacks noninvasive readouts of maternal microvascular health. We evaluated whether hypertensive retinopathy (HR) detected during pregnancy is associated with maternal disease severity and adverse neonatal outcomes ...
Gabriele Saccone +6 more
wiley +1 more source
Delay in Diagnosis of Classical Homocystinuria
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake +5 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li +6 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang +7 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova +10 more
wiley +1 more source
Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer +5 more
wiley +1 more source
A Longitudinal Case Study of a Transnational Teacher's Multiliterate Identity and Pedagogy
Reading Research Quarterly, Volume 61, Issue 3, July/August/September 2026.This study focuses on a teacher's conceptualization of literacy and her literacy pedagogy across her first 4 years living in the United States, as she matriculated into a teacher education program and became a teacher in U.S. schools. Data included a digital story she composed as a preservice teacher, additional coursework artifacts, and interviews ...
Grace MyHyun Kim
wiley +1 more source
Clinical &Experimental Ophthalmology, Volume 54, Issue 5, Page 630-652, July 2026.ABSTRACT Background Repeated low‐level red‐light (RLRL) therapy is a novel, non‐invasive intervention for controlling paediatric myopia progression. Despite increasing clinical use, questions remain regarding the magnitude, durability, and safety of treatment effects.
Lee‐Yuan Lin +8 more
wiley +1 more source