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Alan Ma

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

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Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 4

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

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Neurology. Genetics|May 12, 2021
WGS and RNA Studies Diagnose Noncoding <i>DMD</i> Variants in Males With High Creatine KinaseLeigh B Waddell, Samantha J Bryen, Beryl B Cummings, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disabilityLachlan De Hayr, Laura E R Blok, Kerith-Rae Dias, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.
Human Genetics|October 15, 2021
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathyMary C Whitman, Brenda J Barry, Caroline D Robson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2022
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformationsKerith-Rae Dias, Colleen M Carlston, Laura E R Blok, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2024
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohortKerith-Rae Dias, Rupendra Shrestha, Deborah Schofield, et al.
JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
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