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Showing results (71-80 of 85) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Journal of Thrombosis and Haemostasis : JTH|March 24, 2022
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndromeMonica Penon-Portmann, Sarah K Westbury, Ling Li, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
JCI Insight|May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibitionSarah E Sheppard, Michael E March, Christoph Seiler, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Medrxiv : the Preprint Server for Health Sciences|April 29, 2025
A novel splice site variant in <i>DEGS1</i> leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
Journal of Thrombosis and Haemostasis : JTH|March 24, 2022
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndromeMonica Penon-Portmann, Sarah K Westbury, Ling Li, et al.
Human Genetics|May 6, 2026
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolvedHolly C Beale, Victor Tse, Joanna Y Lee, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
JCI Insight|May 8, 2023
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibitionSarah E Sheppard, Michael E March, Christoph Seiler, et al.
American Journal of Medical Genetics. Part A|July 26, 2020
Genotype-phenotype correlation at codon 1740 of SETD2Rachel Rabin, Alireza Radmanesh, Ian A Glass, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Pediatrics|January 19, 2017
Newborn Sequencing in Genomic Medicine and Public HealthJonathan S Berg, Pankaj B Agrawal, Donald B Bailey, et al.
American Journal of Human Genetics|September 3, 2021
Response to Hamosh et alLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
Pageof 9