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David R Adams

Showing results (181-190 of 207) with videos related to

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Biorxiv : the Preprint Server for Biology|November 24, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of HypopigmentationMonika B Dolinska, Yuhong Wang, Nathan P Coussens, et al.
Human Genomics|March 26, 2026
Translating multi-omics into healthcare: requisites for scalable and equitable implementationBirute Tumiene, David R Adams, Robert Allaway, et al.
JCI Insight|June 18, 2026
Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disordersMonika B Dolinska, Yuhong A Wang, Nathan P Coussens, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Pageof 21

Showing results (181-190 of 207) with videos related to

Sort By:
Pageof 21
Biorxiv : the Preprint Server for Biology|November 24, 2025
Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of HypopigmentationMonika B Dolinska, Yuhong Wang, Nathan P Coussens, et al.
Human Genomics|March 26, 2026
Translating multi-omics into healthcare: requisites for scalable and equitable implementationBirute Tumiene, David R Adams, Robert Allaway, et al.
JCI Insight|June 18, 2026
Ampyrone is a direct agonist of human tyrosinase and a potential therapeutic for hypopigmentation disordersMonika B Dolinska, Yuhong A Wang, Nathan P Coussens, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network StudyQueenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, et al.
Molecular Genetics and Metabolism|May 28, 2014
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityDavid R Adams, Hongjie Yuan, Todd Holyoak, et al.
Molecular Genetics and Metabolism|May 7, 2015
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchorsChristina Lam, Gretchen A Golas, Mariska Davids, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 23, 2020
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and scienceKelly Schoch, Cecilia Esteves, Anna Bican, et al.
American Journal of Human Genetics|June 4, 2019
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal AcidificationElena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, et al.
American Journal of Human Genetics|September 7, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Pageof 21