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Lily Bazak

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

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Journal of Neuromuscular Diseases|February 20, 2025
A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descentNurit Assia Batzir, Naama Orenstein, Yuval Yaron, et al.
Prenatal Diagnosis|May 12, 2024
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetusesMichal Levy, Shira Lifshitz, Mirela Goldenberg-Fumanov, et al.
Prenatal Diagnosis|September 5, 2024
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal CohortDana Brabbing-Goldstein, Lily Bazak, Noa Ruhrman-Shahar, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disordersAvi Fellner, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Genome Research|December 19, 2013
A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genesLily Bazak, Ami Haviv, Michal Barak, et al.
European Journal of Medical Genetics|December 28, 2020
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactylyLina Basel-Salmon, Noa Ruhrman-Shahar, Ortal Barel, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Prenatal Diagnosis|March 9, 2021
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal settingRivka Sukenik-Halevy, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Pediatric Research|May 11, 2024
High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel diseaseAasem Abu Shtaya, Naama Orenstein, Lily Bazak, et al.
Pageof 5

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

Sort By:
Pageof 5
Journal of Neuromuscular Diseases|February 20, 2025
A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descentNurit Assia Batzir, Naama Orenstein, Yuval Yaron, et al.
Prenatal Diagnosis|May 12, 2024
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetusesMichal Levy, Shira Lifshitz, Mirela Goldenberg-Fumanov, et al.
Prenatal Diagnosis|September 5, 2024
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal CohortDana Brabbing-Goldstein, Lily Bazak, Noa Ruhrman-Shahar, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disordersAvi Fellner, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Genome Research|December 19, 2013
A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genesLily Bazak, Ami Haviv, Michal Barak, et al.
European Journal of Medical Genetics|December 28, 2020
Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactylyLina Basel-Salmon, Noa Ruhrman-Shahar, Ortal Barel, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Prenatal Diagnosis|March 9, 2021
The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal settingRivka Sukenik-Halevy, Noa Ruhrman-Shahar, Naama Orenstein, et al.
Pediatric Research|May 11, 2024
High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel diseaseAasem Abu Shtaya, Naama Orenstein, Lily Bazak, et al.
Pageof 5