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Jacek Majewski

Showing results (211-220 of 333) with videos related to

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Nature Reviews. Cancer|January 25, 2014
Paediatric and adult glioblastoma: multiform (epi)genomic culprits emergeDominik Sturm, Sebastian Bender, David T W Jones, et al.
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Reproductive Biomedicine Online|April 3, 2026
Lessons learned from the exome sequencing of nine cases of infertility and the way forwardJalal V Broojeni, Mohamed Elmahdy, Sacha Mitchell, et al.
Oncotarget|December 10, 2015
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumorSomayyeh Fahiminiya, Leora Witkowski, Javad Nadaf, et al.
Human Mutation|October 27, 2018
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signaturesEster Castellsagué, Rui Li, Rosa Aligue, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
Brain : a Journal of Neurology|December 12, 2017
POLR3A variants in hereditary spastic paraplegia and ataxiaLaurence Gauquelin, Martine Tétreault, Isabelle Thiffault, et al.
JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.
Nature|May 30, 2014
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationEmmanuel Martin, Noé Palmic, Sylvia Sanquer, et al.
Pageof 34

Showing results (211-220 of 333) with videos related to

Sort By:
Pageof 34
Nature Reviews. Cancer|January 25, 2014
Paediatric and adult glioblastoma: multiform (epi)genomic culprits emergeDominik Sturm, Sebastian Bender, David T W Jones, et al.
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Reproductive Biomedicine Online|April 3, 2026
Lessons learned from the exome sequencing of nine cases of infertility and the way forwardJalal V Broojeni, Mohamed Elmahdy, Sacha Mitchell, et al.
Oncotarget|December 10, 2015
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumorSomayyeh Fahiminiya, Leora Witkowski, Javad Nadaf, et al.
Human Mutation|October 27, 2018
Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signaturesEster Castellsagué, Rui Li, Rosa Aligue, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
Brain : a Journal of Neurology|December 12, 2017
POLR3A variants in hereditary spastic paraplegia and ataxiaLaurence Gauquelin, Martine Tétreault, Isabelle Thiffault, et al.
JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
Movement Disorders Clinical Practice|November 9, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar AtrophyLaurence Gauquelin, Taila Hartley, Mark Tarnopolsky, et al.
Nature|May 30, 2014
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferationEmmanuel Martin, Noé Palmic, Sylvia Sanquer, et al.
Pageof 34