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Jacek Majewski

Showing results (251-260 of 333) with videos related to

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BMC Medical Genetics|December 20, 2014
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesThierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, et al.
JAMA Ophthalmology|August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutationsJohane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Cancer Letters|November 8, 2015
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancerAlyssa L Smith, Najmeh Alirezaie, Ashton Connor, et al.
Nature Immunology|November 17, 2016
Erratum: USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammationSabrina Torre, Maria J Polyak, David Langlais, et al.
Nature Immunology|October 11, 2016
USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammationSabrina Torre, Maria J Polyak, David Langlais, et al.
Acta Neuropathologica|August 14, 2012
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutationsXiao-Yang Liu, Noha Gerges, Andrey Korshunov, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Pageof 34

Showing results (251-260 of 333) with videos related to

Sort By:
Pageof 34
BMC Medical Genetics|December 20, 2014
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesThierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, et al.
JAMA Ophthalmology|August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutationsJohane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Clinical Epigenetics|April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Cancer Letters|November 8, 2015
Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancerAlyssa L Smith, Najmeh Alirezaie, Ashton Connor, et al.
Nature Immunology|November 17, 2016
Erratum: USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammationSabrina Torre, Maria J Polyak, David Langlais, et al.
Nature Immunology|October 11, 2016
USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammationSabrina Torre, Maria J Polyak, David Langlais, et al.
Acta Neuropathologica|August 14, 2012
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutationsXiao-Yang Liu, Noha Gerges, Andrey Korshunov, et al.
American Journal of Human Genetics|July 2, 2013
Mutations in PIK3R1 cause SHORT syndromeDavid A Dyment, Amanda C Smith, Diana Alcantara, et al.
Pageof 34