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Chaim Jalas

Showing results (41-50 of 49) with videos related to

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Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Blood|August 3, 2013
Genetic loss of SH2B3 in acute lymphoblastic leukemiaArianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
American Journal of Obstetrics and Gynecology|December 18, 2025
Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validationPavan Gill, Xin Tao, Yiping Zhan, et al.
American Journal of Human Genetics|September 30, 2014
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variantsA Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature Genetics|August 29, 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibilityAleksejs Sazonovs, Christine R Stevens, Guhan R Venkataraman, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
Journal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.
Blood|August 3, 2013
Genetic loss of SH2B3 in acute lymphoblastic leukemiaArianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
American Journal of Obstetrics and Gynecology|December 18, 2025
Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validationPavan Gill, Xin Tao, Yiping Zhan, et al.
American Journal of Human Genetics|September 30, 2014
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variantsA Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, et al.
Plos Genetics|May 31, 2019
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Plos Genetics|May 26, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish populationManuel A Rivas, Brandon E Avila, Jukka Koskela, et al.
Nature Genetics|August 29, 2022
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibilityAleksejs Sazonovs, Christine R Stevens, Guhan R Venkataraman, et al.
Pageof 5