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David H Ledbetter

Showing results (61-70 of 125) with videos related to

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Plos One|November 12, 2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patientsMatthew T Oetjens, Jonathan Z Luo, Alexander Chang, et al.
Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 30, 2020
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriersCaitlin M Hudac, Joanna Bove, Shelley Barber, et al.
American Journal of Human Genetics|May 4, 2020
Insufficient Evidence for "Autism-Specific" GenesScott M Myers, Thomas D Challman, Raphael Bernier, 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.
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.
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.
Pageof 13

Showing results (61-70 of 125) with videos related to

Sort By:
Pageof 13
Plos One|November 12, 2020
Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patientsMatthew T Oetjens, Jonathan Z Luo, Alexander Chang, et al.
Human Molecular Genetics|July 7, 2011
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangementsYue Luo, Karen E Hermetz, Jodi M Jackson, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 30, 2020
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriersCaitlin M Hudac, Joanna Bove, Shelley Barber, et al.
American Journal of Human Genetics|May 4, 2020
Insufficient Evidence for "Autism-Specific" GenesScott M Myers, Thomas D Challman, Raphael Bernier, 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.
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.
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.
Pageof 13