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Jonathan J Rios

Showing results (41-50 of 55) with videos related to

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Genetics in Medicine Open|February 10, 2025
Biallelic <i>SLC13A1</i> loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasiaChristina G Tise, Katie Ashton, Lachlan de Hayr, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 27, 2021
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in MiceJonathan J Rios, Kristin Denton, Jamie Russell, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Biorxiv : the Preprint Server for Biology|June 9, 2023
Association of genetic variation in Hao Yu, Anas M Khanshour, Aki Ushiki, et al.
Elife|January 26, 2024
Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosisHao Yu, Anas M Khanshour, Aki Ushiki, et al.
The Journal of Clinical Investigation|November 14, 2023
Impaired glycine neurotransmission causes adolescent idiopathic scoliosisXiaolu Wang, Ming Yue, Jason Pui Yin Cheung, et al.
Human Molecular Genetics|November 6, 2018
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility lociAnas M Khanshour, Ikuyo Kou, Yanhui Fan, et al.
Nature Immunology|March 29, 2016
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesisPetro Starokadomskyy, Terry Gemelli, Jonathan J Rios, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Genetics in Medicine Open|February 10, 2025
Biallelic <i>SLC13A1</i> loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasiaChristina G Tise, Katie Ashton, Lachlan de Hayr, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 27, 2021
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in MiceJonathan J Rios, Kristin Denton, Jamie Russell, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Biorxiv : the Preprint Server for Biology|June 9, 2023
Association of genetic variation in Hao Yu, Anas M Khanshour, Aki Ushiki, et al.
Elife|January 26, 2024
Association of genetic variation in <i>COL11A1</i> with adolescent idiopathic scoliosisHao Yu, Anas M Khanshour, Aki Ushiki, et al.
The Journal of Clinical Investigation|November 14, 2023
Impaired glycine neurotransmission causes adolescent idiopathic scoliosisXiaolu Wang, Ming Yue, Jason Pui Yin Cheung, et al.
Human Molecular Genetics|November 6, 2018
Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility lociAnas M Khanshour, Ikuyo Kou, Yanhui Fan, et al.
Nature Immunology|March 29, 2016
DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesisPetro Starokadomskyy, Terry Gemelli, Jonathan J Rios, et al.
Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.
Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.
Pageof 6