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Hagar Mor-Shaked

Showing results (11-20 of 52) with videos related to

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Genetics|November 7, 2018
The G-rich Repeats in <i>FMR1</i> and <i>C9orf72</i> Loci Are Hotspots for Local Unpairing of DNAManar Abu Diab, Hagar Mor-Shaked, Eliora Cohen, et al.
Clinical Genetics|January 7, 2021
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delayHagar Mor-Shaked, Somaya Salah, Shira Yanovsky-Dagan, et al.
American Journal of Medical Genetics. Part A|February 7, 2020
Grandparental genotyping enhances exome variant interpretationHagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, et al.
Prenatal Diagnosis|June 16, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingTova Wagner, Duha Fahham, Ayala Frumkin, et al.
The Journal of Biological Chemistry|March 3, 2024
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35Adriana Aguila, Somaya Salah, Gopinath Kulasekaran, et al.
European Journal of Human Genetics : EJHG|December 12, 2023
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndromeAvivit Cahn, Hagar Mor-Shaked, Hallel Rosenberg-Fogler, et al.
American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.
European Journal of Human Genetics : EJHG|December 17, 2020
A human case of GIMAP6 deficiency: a novel primary immune deficiencyBella Shadur, Nathalie Asherie, Shlomit Kfir-Erenfeld, et al.
American Journal of Medical Genetics. Part A|September 27, 2025
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2Jonathan Rips, Hagar Mor-Shaked, Oded Shamriz, et al.
Molecular Genetics and Genomics : MGG|April 29, 2022
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangementsRachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, et al.
Pageof 6

Showing results (11-20 of 52) with videos related to

Sort By:
Pageof 6
Genetics|November 7, 2018
The G-rich Repeats in <i>FMR1</i> and <i>C9orf72</i> Loci Are Hotspots for Local Unpairing of DNAManar Abu Diab, Hagar Mor-Shaked, Eliora Cohen, et al.
Clinical Genetics|January 7, 2021
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delayHagar Mor-Shaked, Somaya Salah, Shira Yanovsky-Dagan, et al.
American Journal of Medical Genetics. Part A|February 7, 2020
Grandparental genotyping enhances exome variant interpretationHagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma, et al.
Prenatal Diagnosis|June 16, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingTova Wagner, Duha Fahham, Ayala Frumkin, et al.
The Journal of Biological Chemistry|March 3, 2024
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35Adriana Aguila, Somaya Salah, Gopinath Kulasekaran, et al.
European Journal of Human Genetics : EJHG|December 12, 2023
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndromeAvivit Cahn, Hagar Mor-Shaked, Hallel Rosenberg-Fogler, et al.
American Journal of Medical Genetics. Part A|May 30, 2025
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing SynpolydactylyJonathan Rips, Rivka Birnbaum, Chaim Jalas, et al.
European Journal of Human Genetics : EJHG|December 17, 2020
A human case of GIMAP6 deficiency: a novel primary immune deficiencyBella Shadur, Nathalie Asherie, Shlomit Kfir-Erenfeld, et al.
American Journal of Medical Genetics. Part A|September 27, 2025
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2Jonathan Rips, Hagar Mor-Shaked, Oded Shamriz, et al.
Molecular Genetics and Genomics : MGG|April 29, 2022
Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangementsRachel Michaelson-Cohen, Omer Murik, Sharon Zeligson, et al.
Pageof 6