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J Cowley

Showing results (471-480 of 489) with videos related to

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Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Nature Communications|January 25, 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderlyMark Pinese, Paul Lacaze, Emma M Rath, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 27, 2013
Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of vaterDavid K Chang, Nigel B Jamieson, Amber L Johns, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Genome Medicine|April 4, 2023
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancerChelsea Mayoh, Andrew J Gifford, Rachael Terry, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Nature Medicine|June 6, 2024
Precision-guided treatment in high-risk pediatric cancersLoretta M S Lau, Dong-Anh Khuong-Quang, Chelsea Mayoh, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 13, 2026
Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancerNoemi A Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, et al.
EMBO Molecular Medicine|December 20, 2021
In vitro and in vivo drug screens of tumor cells identify novel therapies for high-risk child cancerLoretta M S Lau, Chelsea Mayoh, Jinhan Xie, et al.
Pageof 49

Showing results (471-480 of 489) with videos related to

Sort By:
Pageof 49
Cell|February 24, 2018
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresVincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, et al.
American Journal of Human Genetics|December 5, 2017
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb MalformationsElizabeth E Palmer, Raman Kumar, Christopher T Gordon, et al.
Nature Communications|January 25, 2020
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderlyMark Pinese, Paul Lacaze, Emma M Rath, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 27, 2013
Histomolecular phenotypes and outcome in adenocarcinoma of the ampulla of vaterDavid K Chang, Nigel B Jamieson, Amber L Johns, et al.
American Journal of Human Genetics|March 5, 2019
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive SyndromeElizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, et al.
Genome Medicine|April 4, 2023
A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancerChelsea Mayoh, Andrew J Gifford, Rachael Terry, et al.
Med (New York, N.Y.)|February 12, 2021
Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locusAnn E Frazier, Alison G Compton, Yoshihito Kishita, et al.
Nature Medicine|June 6, 2024
Precision-guided treatment in high-risk pediatric cancersLoretta M S Lau, Dong-Anh Khuong-Quang, Chelsea Mayoh, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|February 13, 2026
Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancerNoemi A Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, et al.
EMBO Molecular Medicine|December 20, 2021
In vitro and in vivo drug screens of tumor cells identify novel therapies for high-risk child cancerLoretta M S Lau, Chelsea Mayoh, Jinhan Xie, et al.
Pageof 49