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L Beaudet

Showing results (431-440 of 456) with videos related to

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American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Nature Communications|June 27, 2017
Prevalence of sexual dimorphism in mammalian phenotypic traitsNatasha A Karp, Jeremy Mason, Arthur L Beaudet, et al.
Nature Communications|February 2, 2020
Human and mouse essentiality screens as a resource for disease gene discoveryPilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A Murray, et al.
Genome Biology|February 4, 2020
The Deep Genome ProjectK C Kent Lloyd, David J Adams, Gareth Baynam, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Pageof 46

Showing results (431-440 of 456) with videos related to

Sort By:
Pageof 46
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Nature Communications|June 27, 2017
Prevalence of sexual dimorphism in mammalian phenotypic traitsNatasha A Karp, Jeremy Mason, Arthur L Beaudet, et al.
Nature Communications|February 2, 2020
Human and mouse essentiality screens as a resource for disease gene discoveryPilar Cacheiro, Violeta Muñoz-Fuentes, Stephen A Murray, et al.
Genome Biology|February 4, 2020
The Deep Genome ProjectK C Kent Lloyd, David J Adams, Gareth Baynam, et al.
The New England Journal of Medicine|June 20, 2019
Reanalysis of Clinical Exome Sequencing DataPengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Pageof 46