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Chaim Jalas

Showing results (31-40 of 49) with videos related to

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JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafnessVincent J Guen, Simon Edvardson, Nitay D Fraenkel, et al.
Journal of Assisted Reproduction and Genetics|June 1, 2016
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocystsNathan R Treff, Katherine Thompson, Michael Rafizadeh, et al.
American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
Fertility and Sterility|September 1, 2020
A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsyAshley W Tiegs, Xin Tao, Yiping Zhan, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
Journal of Medical Genetics|July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathyWendy K Chung, Kimberly Martin, Chaim Jalas, et al.
The Journal of Clinical Investigation|November 2, 2012
DGAT1 mutation is linked to a congenital diarrheal disorderJoel T Haas, Harland S Winter, Elaine Lim, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
JAMA Ophthalmology|December 27, 2014
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosaElia Shevach, Manir Ali, Liliana Mizrahi-Meissonnier, et al.
Plos One|May 8, 2012
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismSimon Edvardson, Yuval Cinnamon, Asaf Ta-Shma, et al.
American Journal of Medical Genetics. Part A|November 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafnessVincent J Guen, Simon Edvardson, Nitay D Fraenkel, et al.
Journal of Assisted Reproduction and Genetics|June 1, 2016
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocystsNathan R Treff, Katherine Thompson, Michael Rafizadeh, et al.
American Journal of Human Genetics|March 21, 2017
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal SyndromeAsaf Ta-Shma, Tahir N Khan, Asaf Vivante, et al.
Fertility and Sterility|September 1, 2020
A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsyAshley W Tiegs, Xin Tao, Yiping Zhan, et al.
Journal of Medical Genetics|November 8, 2015
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi geneSimon Edvardson, Shingo Kose, Chaim Jalas, et al.
Journal of Medical Genetics|July 18, 2015
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathyWendy K Chung, Kimberly Martin, Chaim Jalas, et al.
The Journal of Clinical Investigation|November 2, 2012
DGAT1 mutation is linked to a congenital diarrheal disorderJoel T Haas, Harland S Winter, Elaine Lim, et al.
American Journal of Medical Genetics. Part A|December 8, 2011
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairmentLauren J Francey, Laura K Conlin, Hanna E Kadesch, et al.
Pageof 5