Ruti Parvari

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 15

Top Topics

Hypertrophic Cardiomyopathy

Left Ventricular

Duchenne Muscular Dystrophy

Top Venues

International journal of molecular sciences

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Pierre Majdalani, Uri Yoel, Tayseer Nasasra, Merav Fraenkel, Alon Haim, Neta Loewenthal, Raz Zarivach, Eli Hershkovitz, Ruti Parvari
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred. International journal of molecular sciences 24 (9) (2023)
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. International journal of molecular sciences 24 (2) (2023)
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. International journal of molecular sciences 24 (2) (2023)
Aviva Levitas, Liam Aspit, Neta Lowenthal, David Shaki, Hanna Krymko, Leonel Slanovic, Ronit Yagev, Ruti Parvari
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. International journal of molecular sciences 24 (10) (2023)
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. International journal of molecular sciences 24 (2) (2023)
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. International journal of molecular sciences 24 (2) (2023)
Pierre Majdalani, Uri Yoel, Tayseer Nasasra, Merav Fraenkel, Alon Haim, Neta Loewenthal, Raz Zarivach, Eli Hershkovitz, Ruti Parvari
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred. International journal of molecular sciences 24 (9) (2023)
Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari
A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans. International journal of molecular sciences 24 (2) (2023)
Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani, Oren Iny, Ruti Parvari, Erez Tsumi
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes. American journal of medical genetics. Part A 188 (12) (2022)
Liad Segal, Sharon Etzion, Sigal Elyagon, Moran Shahar, Hadar Klapper-Goldstein, Aviva Levitas, Michael S Kapiloff, Ruti Parvari, Yoram Etzion
Dock10 Regulates Cardiac Function under Neurohormonal Stress. International journal of molecular sciences 23 (17) (2022)
Maram Arafat, Sandra E Kleiman, Ali AbuMadighem, Atif Zeadna, Eliahu Levitas, Iris Har Vardi, Shimi Barda, Ofer Lehavi, Ron Hauser, Eitan Lunenfeld, Mahmoud Huleihel, Moran Gershoni, Ruti Parvari
Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility. European journal of human genetics : EJHG 29 (12) (2021)
Yaniv Faingelernt, Eli Hershkovitz, Bassam Abu-Libdeh, Amal Abedrabbo, Sara Abu-Rmaileh Amro, Raz Zarivach, David Zangen, Eran Lavi, Alon Haim, Ruti Parvari, Abdulsalam Abu-Libdeh
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity. American journal of medical genetics. Part A 185 (4) (2021)
Liam Aspit, Arwas Noga, Hanna Krymko, Yoram Etzion, Ruti Parvari, Aviva Levitas
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes. Journal of pediatric genetics 11 (4) (2020)
Maram Arafat, Avi Harlev, Iris Har-Vardi, Eliahu Levitas, Tsvia Priel, Moran Gershoni, Charles Searby, Val C Sheffield, Eitan Lunenfeld, Ruti Parvari
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. Journal of medical genetics (2020)
Maram Arafat, Atif Zeadna, Eliahu Levitas, Iris Har Vardi, Benzion Samueli, Ruth Shaco-Levy, Salam Dabsan, Eitan Lunenfeld, Mahmoud Huleihel, Ruti Parvari
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient. Molecular genetics & genomic medicine 8 (7) (2020)