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W Edward Highsmith

Showing results (31-40 of 66) with videos related to

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The Journal of Molecular Diagnostics : JMD|November 5, 2013
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of lifeHoney V Reddi, Sarah Jenkins, Jason Theis, et al.
Plos One|November 28, 2012
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophyEric D Wieben, Ross A Aleff, Nirubol Tosakulwong, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 13, 2014
A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosisYi-Chang Liu, Honey Vodur Reddi, Sarah Waheed, et al.
Journal of Child Neurology|December 26, 2012
Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansionsMeredith M Renda, Robert G Voigt, Dusica Babovic-Vuksanovic, et al.
Cancer|November 4, 2009
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinomaRobert R McWilliams, Gloria M Petersen, Kari G Rabe, et al.
Molecular Genetics and Metabolism|May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencingEmily H Smith, Cheryl Thomas, David McHugh, et al.
Cold Spring Harbor Molecular Case Studies|January 31, 2019
Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC</i> variant, c.4666dupPatrick Kiessling, Eric Dowling, Yajue Huang, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 24, 2017
Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvementBrett W Sperry, Angela Dispenzieri, Asad Ikram, et al.
Case Reports in Genetics|March 22, 2016
False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13Yang Cao, Nicole L Hoppman, Sarah E Kerr, et al.
Electrophoresis|March 26, 2003
High-throughput analysis of telomerase by capillary electrophoresisDonald H Atha, Karen Miller, Anita D Sanow, et al.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
The Journal of Molecular Diagnostics : JMD|November 5, 2013
Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of lifeHoney V Reddi, Sarah Jenkins, Jason Theis, et al.
Plos One|November 28, 2012
A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophyEric D Wieben, Ross A Aleff, Nirubol Tosakulwong, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|February 13, 2014
A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosisYi-Chang Liu, Honey Vodur Reddi, Sarah Waheed, et al.
Journal of Child Neurology|December 26, 2012
Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansionsMeredith M Renda, Robert G Voigt, Dusica Babovic-Vuksanovic, et al.
Cancer|November 4, 2009
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinomaRobert R McWilliams, Gloria M Petersen, Kari G Rabe, et al.
Molecular Genetics and Metabolism|May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencingEmily H Smith, Cheryl Thomas, David McHugh, et al.
Cold Spring Harbor Molecular Case Studies|January 31, 2019
Identification of aggressive Gardner syndrome phenotype associated with a de novo <i>APC</i> variant, c.4666dupPatrick Kiessling, Eric Dowling, Yajue Huang, et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis|March 24, 2017
Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvementBrett W Sperry, Angela Dispenzieri, Asad Ikram, et al.
Case Reports in Genetics|March 22, 2016
False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13Yang Cao, Nicole L Hoppman, Sarah E Kerr, et al.
Electrophoresis|March 26, 2003
High-throughput analysis of telomerase by capillary electrophoresisDonald H Atha, Karen Miller, Anita D Sanow, et al.
Pageof 7