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Nature Genetics
|
December 25, 2019
A call for global action for rare diseases in Africa
Gareth 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 Experience
Timothy 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 Disease
Ender 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 disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang 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 proteasomopathies
Sébastien 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 proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
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Search research articles
Search
Showing results (201-210 of 207) with videos related to
Sort By:
Page
of 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 Africa
Gareth 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 Experience
Timothy 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 Disease
Ender 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 disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang 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 proteasomopathies
Sébastien 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 proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Page
of 21