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David R Adams

Showing results (161-170 of 207) with videos related to

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Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Bioorganic & Medicinal Chemistry Letters|November 1, 2005
Pyrrolo(iso)quinoline derivatives as 5-HT(2C) receptor agonistsDavid R Adams, Jonathan M Bentley, Karen R Benwell, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
JCI Insight|January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1BDavid R Adams, Supriya Menezes, Ramon Jauregui, et al.
Disease Models & Mechanisms|March 11, 2020
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial developmentKristin M Ates, Tong Wang, Trevor Moreland, et al.
Human Molecular Genetics|January 5, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pageof 21

Showing results (161-170 of 207) with videos related to

Sort By:
Pageof 21
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Bioorganic & Medicinal Chemistry Letters|November 1, 2005
Pyrrolo(iso)quinoline derivatives as 5-HT(2C) receptor agonistsDavid R Adams, Jonathan M Bentley, Karen R Benwell, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Molecular Genetics and Metabolism|March 14, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiencyMariska Davids, Minal Menezes, Yiran Guo, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
JCI Insight|January 25, 2019
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1BDavid R Adams, Supriya Menezes, Ramon Jauregui, et al.
Disease Models & Mechanisms|March 11, 2020
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial developmentKristin M Ates, Tong Wang, Trevor Moreland, et al.
Human Molecular Genetics|January 5, 2018
A recurrent de novo missense mutation in UBTF causes developmental neuroregressionCamilo Toro, Roderick T Hori, May Christine V Malicdan, et al.
Pageof 21