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Amir Peleg

Showing results (11-20 of 26) with videos related to

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Journal of the Peripheral Nervous System : JPNS|March 28, 2018
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2ULena Sagi-Dain, Lilach Shemer, Nathanel Zelnik, et al.
Archives of Gynecology and Obstetrics|February 16, 2021
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnanciesLena Sagi-Dain, Amihood Singer, Tzipora Falik-Zaccai, et al.
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.
Birth Defects Research|March 3, 2020
Genetic counseling of high-risk isolated populations: A worldwide challengeLena Sagi-Dain, Irith Weissman, Nehama Cohen-Kfir, et al.
Pediatric Research|January 11, 2018
Microarray analysis in pregnancies with isolated unilateral kidney agenesisLena Sagi-Dain, Idit Maya, Amir Peleg, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactylyIrena Kessel, Alina German, Amir Peleg, et al.
Platelets|February 12, 2026
Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet toleranceEmad Muhammad, Eveline Shabbad, Alina Kurolap, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics|July 20, 2024
The effect of opting-in versus opting-out forming on the rate of reported variants of questionable significance in prenatal microarrayJumana Haddad-Halloun, Ava Wexler, Moran Echar, et al.
Human Genetics|July 20, 2019
The rare 13q33-q34 microdeletions: eight new patients and review of the literatureLena Sagi-Dain, Yael Goldberg, Amir Peleg, et al.
Clinical Dysmorphology|September 14, 2020
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1Amir Peleg, Alina Kurolap, Lena Sagi-Dain, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Journal of the Peripheral Nervous System : JPNS|March 28, 2018
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2ULena Sagi-Dain, Lilach Shemer, Nathanel Zelnik, et al.
Archives of Gynecology and Obstetrics|February 16, 2021
The effect of polyhydramnios degree on chromosomal microarray results: a retrospective cohort analysis of 742 singleton pregnanciesLena Sagi-Dain, Amihood Singer, Tzipora Falik-Zaccai, et al.
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.
Birth Defects Research|March 3, 2020
Genetic counseling of high-risk isolated populations: A worldwide challengeLena Sagi-Dain, Irith Weissman, Nehama Cohen-Kfir, et al.
Pediatric Research|January 11, 2018
Microarray analysis in pregnancies with isolated unilateral kidney agenesisLena Sagi-Dain, Idit Maya, Amir Peleg, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactylyIrena Kessel, Alina German, Amir Peleg, et al.
Platelets|February 12, 2026
Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet toleranceEmad Muhammad, Eveline Shabbad, Alina Kurolap, et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics|July 20, 2024
The effect of opting-in versus opting-out forming on the rate of reported variants of questionable significance in prenatal microarrayJumana Haddad-Halloun, Ava Wexler, Moran Echar, et al.
Human Genetics|July 20, 2019
The rare 13q33-q34 microdeletions: eight new patients and review of the literatureLena Sagi-Dain, Yael Goldberg, Amir Peleg, et al.
Clinical Dysmorphology|September 14, 2020
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1Amir Peleg, Alina Kurolap, Lena Sagi-Dain, et al.
Pageof 3