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Health and Technology
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April 6, 2026
Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy
Mai-Lan Ho, Marinka Zitnik, Ronen Azachi, et al.
Nature Communications
|
June 6, 2023
Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain
Rían W Manville, J Alfredo Freites, Richard Sidlow, et al.
Case Reports in Neurological Medicine
|
November 27, 2018
Another Case of Multilevel Cervical Disconnection Syndrome Presenting as Neonatal Encephalopathy
Kaylan M Brady, Jonathan A Blau, Spencer J Serras, et al.
Frontiers in Cellular Neuroscience
|
August 13, 2024
A novel autism-associated <i>KCNB1</i> mutation dramatically slows Kv2.1 potassium channel activation, deactivation and inactivation
Rían W Manville, Samantha D Block, Claire L Illeck, et al.
Frontiers in Pediatrics
|
August 12, 2024
Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review
Andrew J Bauer, Bethany Auble, Amy L Clark, et al.
American Journal of Human Genetics
|
December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
Rebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2024
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
Suellen Jackson, Rebecca Freeman, Adriana Noronha, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Human Molecular Genetics
|
January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
American Journal of Human Genetics
|
January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Health and Technology
|
April 6, 2026
Unifying the odyssey: artificial intelligence for rare disease diagnosis and therapy
Mai-Lan Ho, Marinka Zitnik, Ronen Azachi, et al.
Nature Communications
|
June 6, 2023
Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain
Rían W Manville, J Alfredo Freites, Richard Sidlow, et al.
Case Reports in Neurological Medicine
|
November 27, 2018
Another Case of Multilevel Cervical Disconnection Syndrome Presenting as Neonatal Encephalopathy
Kaylan M Brady, Jonathan A Blau, Spencer J Serras, et al.
Frontiers in Cellular Neuroscience
|
August 13, 2024
A novel autism-associated <i>KCNB1</i> mutation dramatically slows Kv2.1 potassium channel activation, deactivation and inactivation
Rían W Manville, Samantha D Block, Claire L Illeck, et al.
Frontiers in Pediatrics
|
August 12, 2024
Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review
Andrew J Bauer, Bethany Auble, Amy L Clark, et al.
American Journal of Human Genetics
|
December 13, 2023
Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases
Rebecca I Torene, Maria J Guillen Sacoto, Francisca Millan, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2024
Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
Suellen Jackson, Rebecca Freeman, Adriana Noronha, et al.
American Journal of Human Genetics
|
January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
Karim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Human Molecular Genetics
|
January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum
Eunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
American Journal of Human Genetics
|
January 29, 2025
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, et al.
Page
of 4