Ruti Parvari
Beersheba, D, Israel
Last Updated: 09/26/2026
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Found 33 publications
The genomic era of "idiopathic" male infertility: why comprehensive andrological evaluation matters more than ever.
Journal: Journal of assisted reproduction and genetics
Published: March 24, 2026
A novel loss-of-function mutation in MCMDC2 is associated with male infertility.
Journal: Human genome variation
Published: August 16, 2025
Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts.
Journal: Scientific reports
Published: January 08, 2024
A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Journal: International journal of molecular sciences
Published: April 15, 2023
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.
Journal: International journal of molecular sciences
Published: March 30, 2023
Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Journal: Biological research
Published: November 16, 2022
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans.
Journal: International journal of molecular sciences
Published: November 09, 2022
Dock10 Regulates Cardiac Function under Neurohormonal Stress.
Journal: International journal of molecular sciences
Published: July 11, 2022
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
Journal: American journal of medical genetics. Part A
Published: May 01, 2022
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility.
Journal: European journal of human genetics : EJHG
Published: April 21, 2021
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Journal: American journal of medical genetics. Part A
Published: September 16, 2020
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.
Journal: Journal of pediatric genetics
Published: June 24, 2020
Last Updated: 09/26/2026