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Ruti Parvari

Showing results (11-20 of 47) with videos related to

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Pediatric Nephrology (Berlin, Germany)|January 16, 2007
Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observationsDaniel Landau, Tal Oved, Dan Geiger, et al.
Journal of Pediatric Genetics|October 21, 2022
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated GenesLiam Aspit, Noga Arwas, Hanna Krymko, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 30, 2006
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRDGuoling Tian, Melissa C Huang, Ruti Parvari, et al.
Plos One|January 4, 2013
Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependenceSophia Magen, Roberta Magnani, Sitvanit Haziza, et al.
The Israel Medical Association Journal : IMAJ|August 25, 2009
McCune-Albright syndrome in a discordant monozygotic twinRoni Peleg, Avizov Luba, Alon Eliakim, et al.
Hormone Research in Paediatrics|April 10, 2014
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiencyYael Feinstein, Baruch Yerushalmi, Neta Loewenthal, et al.
American Journal of Human Genetics|April 19, 2011
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, et al.
Journal of Medical Genetics|December 7, 2018
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathyLiam Aspit, Aviva Levitas, Sharon Etzion, et al.
American Journal of Medical Genetics. Part A|September 16, 2022
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genesBaker Elsana, Ahed Imtirat, Ronit Yagev, et al.
International Journal of Molecular Sciences|May 27, 2023
A Novel Mutation in the <i>ADAMTS10</i> 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 HeartAviva Levitas, Liam Aspit, Neta Lowenthal, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
Pediatric Nephrology (Berlin, Germany)|January 16, 2007
Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observationsDaniel Landau, Tal Oved, Dan Geiger, et al.
Journal of Pediatric Genetics|October 21, 2022
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated GenesLiam Aspit, Noga Arwas, Hanna Krymko, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 30, 2006
Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRDGuoling Tian, Melissa C Huang, Ruti Parvari, et al.
Plos One|January 4, 2013
Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependenceSophia Magen, Roberta Magnani, Sitvanit Haziza, et al.
The Israel Medical Association Journal : IMAJ|August 25, 2009
McCune-Albright syndrome in a discordant monozygotic twinRoni Peleg, Avizov Luba, Alon Eliakim, et al.
Hormone Research in Paediatrics|April 10, 2014
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiencyYael Feinstein, Baruch Yerushalmi, Neta Loewenthal, et al.
American Journal of Human Genetics|April 19, 2011
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, et al.
Journal of Medical Genetics|December 7, 2018
CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathyLiam Aspit, Aviva Levitas, Sharon Etzion, et al.
American Journal of Medical Genetics. Part A|September 16, 2022
Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genesBaker Elsana, Ahed Imtirat, Ronit Yagev, et al.
International Journal of Molecular Sciences|May 27, 2023
A Novel Mutation in the <i>ADAMTS10</i> 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 HeartAviva Levitas, Liam Aspit, Neta Lowenthal, et al.
Pageof 5