Last Updated: 09/26/2026
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Found 6 publications
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
Journal: The Journal of clinical investigation
Published: July 23, 2024
Interpreter style in translating complex terminology and psychosocial aspects of genetic counseling sessions.
Journal: Journal of genetic counseling
Published: March 26, 2024
Evolving growth hormone deficiency: proof of concept.
Journal: Frontiers in endocrinology
Published: March 09, 2024
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Journal: Human mutation
Published: June 03, 2021
Focused Revision: ACMG practice resource: Genetic evaluation of short stature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 12, 2020
Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
Journal: Journal of the neurological sciences
Published: June 08, 2019
Showing 1-6 of 6
Last Updated: 09/26/2026