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Clinical Genetics
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May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
JAMA Pediatrics
|
April 4, 2018
Association of Histologic Chorioamnionitis With Perinatal Brain Injury and Early Childhood Neurodevelopmental Outcomes Among Preterm Neonates
Daniel Bierstone, Nienke Wagenaar, Dawn L Gano, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Neurology
|
February 9, 2026
Expert Consensus Approach to Developing Inpatient Common Data Elements for Neonatal Encephalopathy Research
Eric S Peeples, Ulrike Mietzsch, Eleanor J Molloy, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
NPJ Genomic Medicine
|
May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
JAMA Neurology
|
May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
Emma Sherrill, David Cheerie, Cara J Beck, et al.
EMBO Molecular Medicine
|
June 14, 2022
Functional divergence of the two Elongator subcomplexes during neurodevelopment
Monika Gaik, Marija Kojic, Megan R Stegeman, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
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of 18
Search research articles
Search
Showing results (161-170 of 180) with videos related to
Sort By:
Page
of 18
Clinical Genetics
|
May 8, 2021
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy
Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, et al.
JAMA Pediatrics
|
April 4, 2018
Association of Histologic Chorioamnionitis With Perinatal Brain Injury and Early Childhood Neurodevelopmental Outcomes Among Preterm Neonates
Daniel Bierstone, Nienke Wagenaar, Dawn L Gano, et al.
Neurology. Genetics
|
May 22, 2025
<i>PRRT</i> <i>2</i>-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes
Madeline Komar, Jashanpreet Sidhu, Jiju Joseph, et al.
Neurology
|
February 9, 2026
Expert Consensus Approach to Developing Inpatient Common Data Elements for Neonatal Encephalopathy Research
Eric S Peeples, Ulrike Mietzsch, Eleanor J Molloy, et al.
NPJ Genomic Medicine
|
April 6, 2024
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Ali AlMail, Ahmed Jamjoom, Amy Pan, et al.
NPJ Genomic Medicine
|
May 25, 2026
Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?
Leo Arkush, Kristina Karandasheva, Frédérique Ouellet, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
JAMA Neurology
|
May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies
Emma Sherrill, David Cheerie, Cara J Beck, et al.
EMBO Molecular Medicine
|
June 14, 2022
Functional divergence of the two Elongator subcomplexes during neurodevelopment
Monika Gaik, Marija Kojic, Megan R Stegeman, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
Page
of 18