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Nancy B Spinner

Showing results (121-130 of 140) with videos related to

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Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Hepatology Communications|December 14, 2020
Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational StudyBinita M Kamath, Wen Ye, Nathan P Goodrich, et al.
Genetics in Medicine Open|January 26, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infantsK Taylor Wild, Sara L Reichert, Matthew C Dulik, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart, Alina Huang, Francesca Faravelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.
Genome Research|July 14, 2009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh, Xiaowu Gai, Juan C Perin, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Pageof 14

Showing results (121-130 of 140) with videos related to

Sort By:
Pageof 14
Human Genomics|July 19, 2015
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac deathMindy H Li, Jenica L Abrudan, Matthew C Dulik, et al.
Hepatology Communications|December 14, 2020
Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational StudyBinita M Kamath, Wen Ye, Nathan P Goodrich, et al.
Genetics in Medicine Open|January 26, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infantsK Taylor Wild, Sara L Reichert, Matthew C Dulik, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart, Alina Huang, Francesca Faravelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencingCarlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterizationCheryl DeScipio, Laura Conlin, Jill Rosenfeld, et al.
Hepatology (Baltimore, Md.)|January 22, 2019
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation SyndromeJohn-Paul Berauer, Anya I Mezina, David T Okou, et al.
Genome Research|July 14, 2009
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsTamim H Shaikh, Xiaowu Gai, Juan C Perin, et al.
American Journal of Human Genetics|May 15, 2010
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDavid T Miller, Margaret P Adam, Swaroop Aradhya, et al.
Pageof 14