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L Michaud

Showing results (481-490 of 509) with videos related to

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Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.
Human Mutation|August 8, 2018
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVPrzemyslaw Szafranski, Ewelina Kośmider, Qian Liu, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Cancer Research|June 25, 2017
Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, et al.
Pageof 51

Showing results (481-490 of 509) with videos related to

Sort By:
Pageof 51
Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.
American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.
American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.
Human Mutation|August 8, 2018
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVPrzemyslaw Szafranski, Ewelina Kośmider, Qian Liu, et al.
American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Nature Genetics|September 24, 2013
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentSilvia Cappello, Mary J Gray, Caroline Badouel, et al.
American Journal of Human Genetics|October 20, 2015
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Myriam Srour, Fadi F Hamdan, Dianalee McKnight, et al.
Cancer Research|June 25, 2017
Functionally Null <i>RAD51D</i> Missense Mutation Associates Strongly with Ovarian CarcinomaBarbara Rivera, Massimo Di Iorio, Jessica Frankum, et al.
Pageof 51