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Jacek Majewski

Showing results (241-250 of 333) with videos related to

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Science Advances|September 7, 2022
Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degenerationMaéva Langouët, Christine Jolicoeur, Awais Javed, et al.
Human Genetics|June 25, 2013
A novel rearrangement of occludin causes brain calcification and renal dysfunctionMarissa A LeBlanc, Lynette S Penney, Daniel Gaston, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|June 2, 2015
Recessive osteogenesis imperfecta caused by missense mutations in SPARCRoberto Mendoza-Londono, Somayyeh Fahiminiya, Jacek Majewski, et al.
Molecular Medicine (Cambridge, Mass.)|March 21, 2025
Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brainJoanna Pomeroy, Malgorzata Borczyk, Maria Kawalec, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Molecular Genetics|March 24, 2017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyDevon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, et al.
Molecular Cell|October 7, 2022
Histone methylation antagonism drives tumor immune evasion in squamous cell carcinomasYinglu Li, Elizabeth M Goldberg, Xiao Chen, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
American Journal of Human Genetics|November 3, 2018
Causative Mutations and Mechanism of Androgenetic Hydatidiform MolesNgoc Minh Phuong Nguyen, Zhao-Jia Ge, Ramesh Reddy, et al.
Pageof 34

Showing results (241-250 of 333) with videos related to

Sort By:
Pageof 34
Science Advances|September 7, 2022
Mutations in <i>BCOR</i>, a co-repressor of <i>CRX/OTX2</i>, are associated with early-onset retinal degenerationMaéva Langouët, Christine Jolicoeur, Awais Javed, et al.
Human Genetics|June 25, 2013
A novel rearrangement of occludin causes brain calcification and renal dysfunctionMarissa A LeBlanc, Lynette S Penney, Daniel Gaston, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|June 2, 2015
Recessive osteogenesis imperfecta caused by missense mutations in SPARCRoberto Mendoza-Londono, Somayyeh Fahiminiya, Jacek Majewski, et al.
Molecular Medicine (Cambridge, Mass.)|March 21, 2025
Spatiotemporal diversity in molecular and functional abnormalities in the mdx dystrophic brainJoanna Pomeroy, Malgorzata Borczyk, Maria Kawalec, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Human Molecular Genetics|March 24, 2017
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathyDevon L Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, et al.
Molecular Cell|October 7, 2022
Histone methylation antagonism drives tumor immune evasion in squamous cell carcinomasYinglu Li, Elizabeth M Goldberg, Xiao Chen, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
American Journal of Human Genetics|November 3, 2018
Causative Mutations and Mechanism of Androgenetic Hydatidiform MolesNgoc Minh Phuong Nguyen, Zhao-Jia Ge, Ramesh Reddy, et al.
Pageof 34