Last Updated: 09/26/2026
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Found 5 publications
Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review.
Journal: Global medical genetics
Published: June 10, 2025
A primer on regulation of laboratory-developed testing procedures: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 10, 2025
Bringing Precision to Pediatric Care: Explainable AI in Predicting No-Show Trends Before and During the COVID-19 Pandemic.
Journal: Bioengineering (Basel, Switzerland)
Published: January 16, 2025
Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Journal: American journal of medical genetics. Part A
Published: July 22, 2019
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report.
Journal: The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society
Published: June 13, 2012
Showing 1-5 of 5
Last Updated: 09/26/2026