Results 271 to 280 of about 76,904 (360)

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
We reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Fei Hou   +5 more
wiley   +1 more source

Static and Dynamic Changes in Local Brain Connectivity in Unilateral Sudden Sensorineural Hearing Loss. [PDF]

open access: yesBioengineering (Basel)
Zeng J   +7 more
europepmc   +1 more source

Congenital Sensorineural Hearing Loss: Mondini's Deformity

open access: bronze, 2001
Enrique Palacios   +2 more
openalex   +1 more source

Patterns of Teprotumumab‐Induced Hearing Dysfunction: A Systematic Review

open access: yesOtolaryngology–Head and Neck Surgery, Volume 173, Issue 3, Page 539-545, September 2025.
Abstract Objective Hearing loss has been reported after administration of the monoclonal antibody teprotumumab. The purpose of this study was to review available evidence regarding the patterns of teprotumumab‐related ototoxicity. Data Sources PubMed, EMBASE, and Cochrane Library.
Kevin Wong   +8 more
wiley   +1 more source

Single‐Step Universal First‐Trimester Cytomegalovirus Screening and Valacyclovir Prophylaxis in Pregnancy: A Cost‐Utility Analysis in a High Seroprevalence Setting

open access: yesPrenatal Diagnosis, Volume 45, Issue 10, Page 1234-1243, September 2025.
ABSTRACT Objective To evaluate the cost‐effectiveness of first trimester single‐step universal cytomegalovirus (CMV) serological screening with valacyclovir as vertical transmission prophylaxis versus routine ultrasound‐directed testing. Methods A payer perspective cost‐utility analysis was conducted on a hypothetical population of 100,000 pregnant ...
Zhi Zhen Lim   +10 more
wiley   +1 more source

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients

open access: yesPediatric Investigation, Volume 9, Issue 3, Page 293-299, September 2025.
NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li   +10 more
wiley   +1 more source

Acoustically Responsive Nanofibrous Scaffolds with 3D Hierarchy for Tympanic Membrane Regeneration

open access: yesSmall Structures, Volume 6, Issue 9, September 2025.
This study investigates the influence of molecular, hierarchical, and acoustical stimulation on biofabricated tympanic membrane (TM) scaffolds within a custom‐built bioreactor mimicking the native tissue niche. It demonstrates that synergistically integrated bioactive agents, 3D hierarchical patterns, and sound waves promote the formation of an aligned
Shivesh Anand   +5 more
wiley   +1 more source

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