Last Updated: 09/26/2026
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Found 64 publications
Spinal Involvement in Charge Syndrome: Implications for Management.
Journal: American journal of medical genetics. Part A
Published: May 17, 2026
Energy response characterization of current-mode MeV Cherenkov aerogel detectors.
Journal: The Review of scientific instruments
Published: February 18, 2026
The Fetal Fentanyl Syndrome: Additional evidence in support of a new human teratogen.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 05, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025
Experimental Demonstration of Dynamical Similarity of the Preseeded Magneto-Rayleigh-Taylor Instability in Scaled Z-Pinch Implosions.
Journal: Physical review letters
Published: May 24, 2025
Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay.
Journal: HGG advances
Published: October 01, 2024
The Prevalence of RNU4-2-Associated Autosomal Dominant Intellectual Disability Syndrome.
Journal: Pediatric neurology
Published: September 26, 2024
Erratum: "Radiation, optical, power flow, and electrical diagnostics at the Z facility: Layout and techniques utilized to operate in the harsh environment" [Rev. Sci. Instrum. 94, 031102 (2023)].
Journal: The Review of scientific instruments
Published: August 13, 2024
Time-of-flight vs time-of-arrival in neutron spectroscopic measurements for high energy density plasmas.
Journal: The Review of scientific instruments
Published: April 18, 2024
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Journal: American journal of human genetics
Published: November 27, 2023
Achievement of Target Gain Larger than Unity in an Inertial Fusion Experiment.
Journal: Physical review letters
Published: October 27, 2023
Last Updated: 09/26/2026