Results 151 to 160 of about 13,290 (279)
ABSTRACT Objective This study aimed to evaluate the impact of pathogenic genetic variants on growth outcomes following 3 years of recombinant human growth hormone (rhGH) therapy in children born small for gestational age with persistent short stature (SGA‐SS). Design A retrospective cohort study.
Sanghee Park +15 more
wiley +1 more source
Squint ASSIST: A Novel Application Program for Detecting Strabismus and Measuring Angle of Deviation. [PDF]
Srisaenpang N +3 more
europepmc +1 more source
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
Clinical and genetic characterization of intellectual disability
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source
Synesthesia of machine (SoM)-driven analog precoder optimization for enhanced ISAC performance in sub-THz systems. [PDF]
Yang Z, Gao S, Cheng X.
europepmc +1 more source
Corneal Sequestration and Bilateral Distichiasis in a Binturong (Arctictis binturong)
ABSTRACT Objective To report the first documented case of corneal sequestration and distichiasis in a binturong (Arctictis binturong), discuss implications of disease prevalence in a non‐domestic feliform, and hypothesize on potential etiology and predisposing factors for corneal sequestration.
Vienna Lunking +7 more
wiley +1 more source
Knowledge, attitude, and practice toward strabismus among caregivers of children. [PDF]
Murthy SR +4 more
europepmc +1 more source
Assessing Co‐Located NISAR and Sentinel‐1 Observations for Atmospheric Characterization
Abstract Tropospheric delay remains one of the largest sources of uncertainty in repeat‐pass Interferometric Synthetic Aperture Radar (InSAR) measurements, while accurate three‐dimensional deformation retrieval continues to be limited by the geometry of current spaceborne SAR systems.
Shadi Oveisgharan +3 more
wiley +1 more source

