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H Ledbetter

Showing results (321-330 of 388) with videos related to

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Human Molecular Genetics|December 15, 2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneC Cardoso, R J Leventer, N Matsumoto, et al.
Human Mutation|December 26, 2001
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)Carlos Cardoso, Richard J Leventer, James J Dowling, et al.
American Journal of Human Genetics|January 9, 2008
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcón, Brett S Abrahams, Jennifer L Stone, et al.
Human Molecular Genetics|June 13, 1998
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson, B D Kuchinka, F Bernasconi, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Human Genetics|March 7, 2003
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Carlos Cardoso, Richard J Leventer, Heather L Ward, et al.
American Journal of Human Genetics|June 28, 2000
An optimized set of human telomere clones for studying telomere integrity and architectureS J Knight, C M Lese, K S Precht, et al.
Frontiers in Genetics|February 28, 2014
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errorsZubin H Patel, Leah C Kottyan, Sara Lazaro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Clinical Genetics|November 22, 2011
Towards an evidence-based process for the clinical interpretation of copy number variationE R Riggs, D M Church, K Hanson, et al.
Pageof 39

Showing results (321-330 of 388) with videos related to

Sort By:
Pageof 39
Human Molecular Genetics|December 15, 2000
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 geneC Cardoso, R J Leventer, N Matsumoto, et al.
Human Mutation|December 26, 2001
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)Carlos Cardoso, Richard J Leventer, James J Dowling, et al.
American Journal of Human Genetics|January 9, 2008
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility geneMaricela Alarcón, Brett S Abrahams, Jennifer L Stone, et al.
Human Molecular Genetics|June 13, 1998
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombinationW P Robinson, B D Kuchinka, F Bernasconi, et al.
American Journal of Human Genetics|December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseasesRebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Human Genetics|March 7, 2003
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3Carlos Cardoso, Richard J Leventer, Heather L Ward, et al.
American Journal of Human Genetics|June 28, 2000
An optimized set of human telomere clones for studying telomere integrity and architectureS J Knight, C M Lese, K S Precht, et al.
Frontiers in Genetics|February 28, 2014
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errorsZubin H Patel, Leah C Kottyan, Sara Lazaro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 31, 2020
Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersSiddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, et al.
Clinical Genetics|November 22, 2011
Towards an evidence-based process for the clinical interpretation of copy number variationE R Riggs, D M Church, K Hanson, et al.
Pageof 39