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Jacek Majewski

Showing results (301-310 of 333) with videos related to

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Human Molecular Genetics|July 1, 2005
Meta-analysis of genome scans of age-related macular degenerationSheila A Fisher, Goncalo R Abecasis, Beverly M Yashar, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Genome Medicine|December 4, 2021
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing geneCaitlin T Fierheller, Laure Guitton-Sert, Wejdan M Alenezi, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Science (New York, N.Y.)|May 14, 2016
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscapeChao Lu, Siddhant U Jain, Dominik Hoelper, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Cancer Research|June 25, 2017
Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, et al.
Biorxiv : the Preprint Server for Biology|December 20, 2023
H3K27me3 spreading organizes canonical PRC1 chromatin architecture to regulate developmental programsBrian Krug, Bo Hu, Haifen Chen, et al.
Acta Neuropathologica|August 26, 2018
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomasElvis Terci Valera, Melissa K McConechy, Tenzin Gayden, et al.
Pageof 34

Showing results (301-310 of 333) with videos related to

Sort By:
Pageof 34
Human Molecular Genetics|July 1, 2005
Meta-analysis of genome scans of age-related macular degenerationSheila A Fisher, Goncalo R Abecasis, Beverly M Yashar, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeRebecca L Hood, Matthew A Lines, Sarah M Nikkel, et al.
Nature Genetics|July 31, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationRobert K Koenekoop, Hui Wang, Jacek Majewski, et al.
Genome Medicine|December 4, 2021
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing geneCaitlin T Fierheller, Laure Guitton-Sert, Wejdan M Alenezi, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Science (New York, N.Y.)|May 14, 2016
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscapeChao Lu, Siddhant U Jain, Dominik Hoelper, et al.
Nature Genetics|April 2, 2013
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndromeLaura M McDonell, Ghayda M Mirzaa, Diana Alcantara, et al.
Cancer Research|June 25, 2017
Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, et al.
Biorxiv : the Preprint Server for Biology|December 20, 2023
H3K27me3 spreading organizes canonical PRC1 chromatin architecture to regulate developmental programsBrian Krug, Bo Hu, Haifen Chen, et al.
Acta Neuropathologica|August 26, 2018
Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomasElvis Terci Valera, Melissa K McConechy, Tenzin Gayden, et al.
Pageof 34