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Chaim Jalas

Showing results (21-30 of 49) with videos related to

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Blood Cells, Molecules & Diseases|April 15, 2011
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish populationChaim Jalas, Sylvia L Anderson, Tova Laufer, et al.
Journal of Medical Genetics|August 27, 2015
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patientsShimon Edvardson, Frank Gerhard, Chaim Jalas, et al.
Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.
Fertility and Sterility|March 22, 2021
Noninvasive preimplantation genetic testing for aneuploidy exhibits high rates of deoxyribonucleic acid amplification failure and poor correlation with results obtained using trophectoderm biopsyBrent M Hanson, Xin Tao, Kathleen H Hong, 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.
Journal of Medical Genetics|September 14, 2013
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposisSimon Edvardson, Angel Ashikov, Chaim Jalas, et al.
Fertility and Sterility|November 26, 2015
Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplificationRebekah S Zimmerman, Chaim Jalas, Xin Tao, et al.
Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.
European Journal of Human Genetics : EJHG|April 13, 2019
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathyRuth Sheffer, Michal Gur, Rebecca Brooks, et al.
Fertility and Sterility|July 12, 2024
Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy platformAmanda Iturriaga, Emily Mounts, Ludovica Picchetta, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Blood Cells, Molecules & Diseases|April 15, 2011
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish populationChaim Jalas, Sylvia L Anderson, Tova Laufer, et al.
Journal of Medical Genetics|August 27, 2015
Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patientsShimon Edvardson, Frank Gerhard, Chaim Jalas, et al.
Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.
Fertility and Sterility|March 22, 2021
Noninvasive preimplantation genetic testing for aneuploidy exhibits high rates of deoxyribonucleic acid amplification failure and poor correlation with results obtained using trophectoderm biopsyBrent M Hanson, Xin Tao, Kathleen H Hong, 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.
Journal of Medical Genetics|September 14, 2013
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposisSimon Edvardson, Angel Ashikov, Chaim Jalas, et al.
Fertility and Sterility|November 26, 2015
Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplificationRebekah S Zimmerman, Chaim Jalas, Xin Tao, et al.
Journal of Medical Genetics|January 22, 2016
Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophySimon Edvardson, Jae Kyo Yi, Chaim Jalas, et al.
European Journal of Human Genetics : EJHG|April 13, 2019
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathyRuth Sheffer, Michal Gur, Rebecca Brooks, et al.
Fertility and Sterility|July 12, 2024
Confirmation and pathogenicity of small copy number variations incidentally detected via a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy platformAmanda Iturriaga, Emily Mounts, Ludovica Picchetta, et al.
Pageof 5