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L Beaudet

Showing results (401-410 of 456) with videos related to

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Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Cell Reports|August 30, 2018
Rapid and Integrative Discovery of Retina Regulatory MoleculesNicholas E Albrecht, Jonathan Alevy, Danye Jiang, et al.
Journal of Autism and Developmental Disorders|February 8, 2017
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Journal of Autism and Developmental Disorders|November 18, 2016
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar, D del Gaudio, J R German, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Pageof 46

Showing results (401-410 of 456) with videos related to

Sort By:
Pageof 46
Human Molecular Genetics|August 26, 2011
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHEPatricia B S Celestino-Soper, Chad A Shaw, Stephan J Sanders, et al.
Cell Reports|August 30, 2018
Rapid and Integrative Discovery of Retina Regulatory MoleculesNicholas E Albrecht, Jonathan Alevy, Danye Jiang, et al.
Journal of Autism and Developmental Disorders|February 8, 2017
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Journal of Autism and Developmental Disorders|November 18, 2016
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.
American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
22q13.3 deletion syndrome: clinical and molecular analysis using array CGHS U Dhar, D del Gaudio, J R German, et al.
The New England Journal of Medicine|October 4, 2013
Clinical whole-exome sequencing for the diagnosis of mendelian disordersYaping Yang, Donna M Muzny, Jeffrey G Reid, et al.
Pageof 46