Last Updated: 09/26/2026
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Found 6 publications
COVID-19 and the adaptive evolution of genetic counseling.
Journal: Journal of genetic counseling
Published: July 12, 2021
Evaluation of an automated process for disclosure of negative noninvasive prenatal test results.
Journal: Journal of genetic counseling
Published: September 24, 2018
Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.
Journal: Investigative ophthalmology & visual science
Published: December 08, 2015
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
Journal: Investigative ophthalmology & visual science
Published: March 07, 2013
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2012
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.
Journal: European journal of human genetics : EJHG
Published: November 03, 2011
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Last Updated: 09/26/2026