Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Clinical Implications of Variability in Left Ventricular Ejection Fraction Determined by Echocardiography and Cardiac Magnetic Resonance.
Journal: Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
Published: February 20, 2024
A patient with single coronary artery, bicuspid aortic valve and sinus of Valsalva aneurysm.
Journal: BMC cardiovascular disorders
Published: June 16, 2020
Examination of Molecular Effects of MYLK Deletion in a Patient with Extensive Aortic, Carotid, and Abdominal Dissections That Underlie the Genetic Dysfunction.
Journal: Case reports in medicine
Published: November 02, 2019
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.
Journal: Case reports in genetics
Published: August 15, 2019
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations.
Journal: Medicina (Kaunas, Lithuania)
Published: March 07, 2019
Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.
Journal: Molecular omics
Published: January 12, 2019
Correction: Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
Journal: Human genome variation
Published: September 06, 2018
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
Journal: Molecular genetics & genomic medicine
Published: July 15, 2018
Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families.
Journal: Human genome variation
Published: April 30, 2018
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.
Journal: Molecular genetics & genomic medicine
Published: December 28, 2017
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Journal: Molecular genetics & genomic medicine
Published: November 29, 2017
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.
Journal: Case reports in genetics
Published: November 01, 2017
Last Updated: 09/26/2026