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David R Adams

Showing results (201-210 of 207) with videos related to

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Nature Genetics|December 25, 2019
A call for global action for rare diseases in AfricaGareth S Baynam, Stephen Groft, Francois H van der Westhuizen, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
Neuron|November 6, 2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseEnder Karaca, Tamar Harel, Davut Pehlivan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Pageof 21

Showing results (201-210 of 207) with videos related to

Sort By:
Pageof 21
You have reached the last page of results.This site can display upto 207 results.
Nature Genetics|December 25, 2019
A call for global action for rare diseases in AfricaGareth S Baynam, Stephen Groft, Francois H van der Westhuizen, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
Neuron|November 6, 2015
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseEnder Karaca, Tamar Harel, Davut Pehlivan, et al.
Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications|November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesSébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Pageof 21