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Jonathan Rodgers

Showing results (11-20 of 16) with videos related to

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Respirology Case Reports|July 3, 2023
Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult maleSamantha Chin-Yun Kung, Olivia Dixon, Sarah Kentwell, et al.
European Journal of Human Genetics : EJHG|July 28, 2022
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variantEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.
Blood Advances|April 27, 2022
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorderAram Niaz, Jia Truong, Annabel Manoleras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, 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 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Respirology Case Reports|July 3, 2023
Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult maleSamantha Chin-Yun Kung, Olivia Dixon, Sarah Kentwell, et al.
European Journal of Human Genetics : EJHG|July 28, 2022
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variantEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.
Blood Advances|April 27, 2022
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorderAram Niaz, Jia Truong, Annabel Manoleras, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2021
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2Víctor Faundes, Stephanie Goh, Rhoda Akilapa, 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 2