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Showing results (361-370 of 383) with videos related to

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Molecular Therapy : the Journal of the American Society of Gene Therapy|April 17, 2019
Preclinical Development of a vWF Aptamer to Limit Thrombosis and Engender Arterial Recanalization of Occluded VesselsShahid M Nimjee, David Dornbos, George A Pitoc, et al.
Plos Genetics|May 17, 2018
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
ACS Medicinal Chemistry Letters|July 17, 2024
Fragment-Based Discovery of Novel MUS81 InhibitorsGavin W Collie, Ulf Börjesson, Yunhua Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2019
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Pageof 39

Showing results (361-370 of 383) with videos related to

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Pageof 39
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 17, 2019
Preclinical Development of a vWF Aptamer to Limit Thrombosis and Engender Arterial Recanalization of Occluded VesselsShahid M Nimjee, David Dornbos, George A Pitoc, et al.
Plos Genetics|May 17, 2018
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and fliesSara Gonçalves, Julie Patat, Maria Clara Guida, et al.
ACS Medicinal Chemistry Letters|July 17, 2024
Fragment-Based Discovery of Novel MUS81 InhibitorsGavin W Collie, Ulf Börjesson, Yunhua Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.
American Journal of Human Genetics|October 12, 2023
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomaliesZelha Nil, Ashish R Deshwar, Yan Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2019
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 4, 2021
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotypePaolo Zanoni, Katharina Steindl, Deepanwita Sengupta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractAlexandria T M Blackburn, Nasim Bekheirnia, Vanessa C Uma, et al.
Pageof 39