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Adam Chamberlin

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

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American Journal of Human Genetics|April 15, 2025
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceLobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, et al.
Journal of Human Genetics|September 26, 2018
Biallelic mutations in FDXR cause neurodegeneration associated with inflammationJesse Slone, Yanyan Peng, Adam Chamberlin, et al.
Human Molecular Genetics|January 5, 2019
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the proteinAdam Chamberlin, Robert Huether, Aline Z Machado, et al.
American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.
JCI Insight|April 20, 2018
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitisJoseph D Sherrill, Kiran Kc, Xinjian Wang, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, 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.
American Journal of Human Genetics|April 15, 2025
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceLobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, et al.
Journal of Human Genetics|September 26, 2018
Biallelic mutations in FDXR cause neurodegeneration associated with inflammationJesse Slone, Yanyan Peng, Adam Chamberlin, et al.
Human Molecular Genetics|January 5, 2019
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the proteinAdam Chamberlin, Robert Huether, Aline Z Machado, et al.
American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.
JCI Insight|April 20, 2018
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitisJoseph D Sherrill, Kiran Kc, Xinjian Wang, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Pageof 2