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Gladys Ho

Showing results (21-30 of 43) with videos related to

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Human Mutation|February 10, 2016
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseThomas Smith, Gladys Ho, John Christodoulou, et al.
Human Mutation|November 20, 2010
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172BGladys Ho, Atsushi Yonezawa, Satohiro Masuda, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyStephanie Fehr, Meredith Wilson, Jenny Downs, et al.
Brain & Development|October 27, 2021
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsyHannah F Jones, Marion Stoll, Gladys Ho, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
American Journal of Medical Genetics. Part A|September 21, 2021
Paternal retraction of a fragile X allele to normal size, showing normal function over two generationsEssra Bartlett, Alison D Archibald, David Francis, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
Human Mutation|February 10, 2016
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseThomas Smith, Gladys Ho, John Christodoulou, et al.
Human Mutation|November 20, 2010
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172BGladys Ho, Atsushi Yonezawa, Satohiro Masuda, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyStephanie Fehr, Meredith Wilson, Jenny Downs, et al.
Brain & Development|October 27, 2021
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsyHannah F Jones, Marion Stoll, Gladys Ho, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
BMJ Open Respiratory Research|February 22, 2022
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of lifeLauren Kelada, Claire Wakefield, Nada Vidic, et al.
Seizure|June 1, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyKavitha Kothur, Katherine Holman, Elizabeth Farnsworth, et al.
American Journal of Medical Genetics. Part A|September 21, 2021
Paternal retraction of a fragile X allele to normal size, showing normal function over two generationsEssra Bartlett, Alison D Archibald, David Francis, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
American Journal of Human Genetics|May 1, 2018
Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic MechanismsThomas A Forbes, Sara E Howden, Kynan Lawlor, et al.
Pageof 5