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Tamar Paperna

Showing results (21-30 of 50) with videos related to

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American Journal of Medical Genetics. Part A|November 8, 2019
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literatureLena Sagi-Dain, Alina Kurolap, Anat Ilivitzki, et al.
American Journal of Medical Genetics. Part A|January 23, 2026
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart FailureTameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, et al.
Journal of Neuroimmunology|January 27, 2010
Involvement of phosphodiesterases in autoimmune diseasesKeren Mizrachi, Revital Aricha, Tali Feferman, et al.
Pharmacogenetics and Genomics|July 12, 2007
Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markersIris Grossman, Nili Avidan, Clara Singer, et al.
Frontiers in Immunology|July 12, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case ReportShirley Pollack, Israel Eisenstein, Adi Mory, et al.
Journal of the American Academy of Dermatology|March 22, 2002
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous familiesAoi Nakano, Gilles G Lestringant, Tamar Paperna, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
Scientific Reports|September 13, 2024
The d3GHR carrier epigenome in Druze clan longevityGhadeer Falah, Alina Kurolap, Tamar Paperna, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|November 8, 2019
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literatureLena Sagi-Dain, Alina Kurolap, Anat Ilivitzki, et al.
American Journal of Medical Genetics. Part A|January 23, 2026
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart FailureTameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, et al.
Journal of Neuroimmunology|January 27, 2010
Involvement of phosphodiesterases in autoimmune diseasesKeren Mizrachi, Revital Aricha, Tali Feferman, et al.
Pharmacogenetics and Genomics|July 12, 2007
Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markersIris Grossman, Nili Avidan, Clara Singer, et al.
Frontiers in Immunology|July 12, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case ReportShirley Pollack, Israel Eisenstein, Adi Mory, et al.
Journal of the American Academy of Dermatology|March 22, 2002
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous familiesAoi Nakano, Gilles G Lestringant, Tamar Paperna, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
Scientific Reports|September 13, 2024
The d3GHR carrier epigenome in Druze clan longevityGhadeer Falah, Alina Kurolap, Tamar Paperna, et al.
Pageof 5