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David R Adams

Showing results (131-140 of 207) with videos related to

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Pigment Cell & Melanoma Research|March 29, 2026
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous AlbinismMeredith F Gillis, Madeleine R Ames, Linnea Lundh, et al.
American Journal of Human Genetics|June 16, 2023
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1BStacie K Loftus, Meredith F Gillis, Linnea Lundh, et al.
Nature Communications|February 8, 2014
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathyHongjie Yuan, Kasper B Hansen, Jing Zhang, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort, et al.
European Journal of Medical Genetics|June 7, 2024
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committeeDavid R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, et al.
American Journal of Human Genetics|February 4, 2017
The Undiagnosed Diseases Network: Accelerating Discovery about Health and DiseaseRachel B Ramoni, John J Mulvihill, David R Adams, et al.
The Journal of Clinical Investigation|October 5, 2011
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismIghovie F Onojafe, David R Adams, Dimitre R Simeonov, et al.
Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.
Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Bioorganic & Medicinal Chemistry Letters|October 13, 2007
2-Aryl-3,3,3-trifluoro-2-hydroxypropionic acids: a new class of protein tyrosine phosphatase 1B inhibitorsDavid R Adams, Achamma Abraham, Jun Asano, et al.
Pageof 21

Showing results (131-140 of 207) with videos related to

Sort By:
Pageof 21
Pigment Cell & Melanoma Research|March 29, 2026
Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous AlbinismMeredith F Gillis, Madeleine R Ames, Linnea Lundh, et al.
American Journal of Human Genetics|June 16, 2023
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1BStacie K Loftus, Meredith F Gillis, Linnea Lundh, et al.
Nature Communications|February 8, 2014
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathyHongjie Yuan, Kasper B Hansen, Jing Zhang, et al.
Medrxiv : the Preprint Server for Health Sciences|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort, et al.
European Journal of Medical Genetics|June 7, 2024
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committeeDavid R Adams, Clara D M van Karnebeek, Sergi Beltran Agulló, et al.
American Journal of Human Genetics|February 4, 2017
The Undiagnosed Diseases Network: Accelerating Discovery about Health and DiseaseRachel B Ramoni, John J Mulvihill, David R Adams, et al.
The Journal of Clinical Investigation|October 5, 2011
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinismIghovie F Onojafe, David R Adams, Dimitre R Simeonov, et al.
Molecular Genetics and Metabolism|December 12, 2018
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patientsJoseph J Chin, Babak Behnam, Mariska Davids, et al.
Human Mutation|July 5, 2017
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardationStephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, et al.
Bioorganic & Medicinal Chemistry Letters|October 13, 2007
2-Aryl-3,3,3-trifluoro-2-hydroxypropionic acids: a new class of protein tyrosine phosphatase 1B inhibitorsDavid R Adams, Achamma Abraham, Jun Asano, et al.
Pageof 21