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Karynne Patterson

Showing results (11-20 of 19) with videos related to

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Kidney International Reports|December 19, 2024
CFAP47 is Implicated in X-Linked Polycystic Kidney DiseaseTakayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Medrxiv : the Preprint Server for Health Sciences|April 18, 2024
<i>CFAP47</i> is a novel causative gene implicated in X-linked polycystic kidney diseaseTakayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Kidney International Reports|December 19, 2024
CFAP47 is Implicated in X-Linked Polycystic Kidney DiseaseTakayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2025
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
Medrxiv : the Preprint Server for Health Sciences|April 18, 2024
<i>CFAP47</i> is a novel causative gene implicated in X-linked polycystic kidney diseaseTakayasu Mori, Takuya Fujimaru, Chunyu Liu, et al.
Genetics in Medicine Open|February 20, 2026
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IXApoorva K Iyengar, Xue Zou, Jian Dai, et al.
American Journal of Ophthalmology|November 16, 2023
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1Karynne Patterson, Jessica X Chong, Doug D Chung, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
Population-scale Long-read Sequencing in the <i>All of Us</i> Research ProgramKiran V Garimella, Qiuhui Li, Julie Wertz, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
American Journal of Human Genetics|February 20, 2025
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumIris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, et al.
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