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Jacek Majewski

Showing results (181-190 of 333) with videos related to

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American Journal of Human Genetics|June 2, 2015
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defectsCraig F Munns, Somayyeh Fahiminiya, Nabin Poudel, et al.
Kidney International|September 17, 2005
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41Katerina Hodanová, Jacek Majewski, Martina Kublová, et al.
Nature Microbiology|July 10, 2019
CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infectionKyoko E Yuki, Hadir Marei, Evgenij Fiskin, et al.
Nature Genetics|May 14, 2021
Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islandsDaniel N Weinberg, Phillip Rosenbaum, Xiao Chen, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Scientific Reports|July 4, 2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand featuresDaniel R Evans, Jane S Green, Somayyeh Fahiminiya, et al.
Kidney International|January 8, 2019
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and miceTomoko Takano, Eric Bareke, Naoki Takeda, et al.
Genome Research|April 9, 2022
H3K36 dimethylation shapes the epigenetic interaction landscape by directing repressive chromatin modifications in embryonic stem cellsHaifen Chen, Bo Hu, Cynthia Horth, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 34

Showing results (181-190 of 333) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|June 2, 2015
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defectsCraig F Munns, Somayyeh Fahiminiya, Nabin Poudel, et al.
Kidney International|September 17, 2005
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41Katerina Hodanová, Jacek Majewski, Martina Kublová, et al.
Nature Microbiology|July 10, 2019
CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infectionKyoko E Yuki, Hadir Marei, Evgenij Fiskin, et al.
Nature Genetics|May 14, 2021
Two competing mechanisms of DNMT3A recruitment regulate the dynamics of de novo DNA methylation at PRC1-targeted CpG islandsDaniel N Weinberg, Phillip Rosenbaum, Xiao Chen, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.
Scientific Reports|July 4, 2020
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand featuresDaniel R Evans, Jane S Green, Somayyeh Fahiminiya, et al.
Kidney International|January 8, 2019
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and miceTomoko Takano, Eric Bareke, Naoki Takeda, et al.
Genome Research|April 9, 2022
H3K36 dimethylation shapes the epigenetic interaction landscape by directing repressive chromatin modifications in embryonic stem cellsHaifen Chen, Bo Hu, Cynthia Horth, et al.
Cancer Discovery|December 5, 2014
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtypeSarah L Sawyer, Lei Tian, Marketta Kähkönen, et al.
Pageof 34