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Moshe Frydman

Showing results (31-40 of 43) with videos related to

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Human Mutation|April 23, 2013
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and miceThomas Parzefall, Shaked Shivatzki, Danielle R Lenz, et al.
The Journal of Clinical Investigation|January 26, 2013
The LINC complex is essential for hearingHenning F Horn, Zippora Brownstein, Danielle R Lenz, et al.
American Journal of Human Genetics|July 7, 2010
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51Tom Walsh, Sarah B Pierce, Danielle R Lenz, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Nature Genetics|May 20, 2003
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinEtgar Levy-Nissenbaum, Regina C Betz, Moshe Frydman, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Journal of Clinical Immunology|April 30, 2016
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
Human Mutation|April 23, 2013
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and miceThomas Parzefall, Shaked Shivatzki, Danielle R Lenz, et al.
The Journal of Clinical Investigation|January 26, 2013
The LINC complex is essential for hearingHenning F Horn, Zippora Brownstein, Danielle R Lenz, et al.
American Journal of Human Genetics|July 7, 2010
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51Tom Walsh, Sarah B Pierce, Danielle R Lenz, et al.
Frontiers in Pediatrics|April 18, 2022
Refining the Phenotypic Spectrum of <i>KMT5B</i>-Associated Developmental DelayAviva Eliyahu, Ortal Barel, Lior Greenbaum, et al.
Nature Genetics|May 20, 2003
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinEtgar Levy-Nissenbaum, Regina C Betz, Moshe Frydman, et al.
Genome Biology|September 16, 2011
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora Brownstein, Lilach M Friedman, Hashem Shahin, et al.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
Journal of Clinical Immunology|April 30, 2016
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.
Pageof 5