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S Lane Rutledge

Showing results (1-10 of 18) with videos related to

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Pediatric Neurology|March 14, 2007
Abnormal white matter in a neurologically intact child with incontinentia pigmentiShannon A Bryant, S Lane Rutledge
Pediatric Neurology|April 17, 2004
Chiari I malformation and neurofibromatosis type 1Richard Shane Tubbs, S Lane Rutledge, Anna Kosentka, et al.
Molecular Genetics and Metabolism|April 28, 2004
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiencyMichael J Bennett, Richard L Boriack, Srinivas Narayan, et al.
American Journal of Human Genetics|November 20, 2015
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and AtaxiaWolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, et al.
Mitochondrion|November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingJack Q Ji, David Dimmock, Lin-Ya Tang, et al.
American Journal of Medical Genetics. Part A|October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disordersFady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization systemFady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testingDana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.
Mitochondrion|January 9, 2018
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6Austin A Larson, Shanti Balasubramaniam, John Christodoulou, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Pediatric Neurology|March 14, 2007
Abnormal white matter in a neurologically intact child with incontinentia pigmentiShannon A Bryant, S Lane Rutledge
Pediatric Neurology|April 17, 2004
Chiari I malformation and neurofibromatosis type 1Richard Shane Tubbs, S Lane Rutledge, Anna Kosentka, et al.
Molecular Genetics and Metabolism|April 28, 2004
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiencyMichael J Bennett, Richard L Boriack, Srinivas Narayan, et al.
American Journal of Human Genetics|November 20, 2015
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and AtaxiaWolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, et al.
Mitochondrion|November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingJack Q Ji, David Dimmock, Lin-Ya Tang, et al.
American Journal of Medical Genetics. Part A|October 28, 2011
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disordersFady M Mikhail, Edward J Lose, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 15, 2013
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization systemFady M Mikhail, Rachel D Burnside, Brooke Rush, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2016
Clinical relevance of small copy-number variants in chromosomal microarray clinical testingDana Hollenbeck, Crescenda L Williams, Kathryn Drazba, et al.
Mitochondrion|January 9, 2018
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6Austin A Larson, Shanti Balasubramaniam, John Christodoulou, et al.
Frontiers in Neurology|December 1, 2016
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP DefectsTom E J Theunissen, Radek Szklarczyk, Mike Gerards, et al.
Pageof 2