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Medrxiv : the Preprint Server for Health Sciences
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July 28, 2023
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease
Leigh C Carmody, Michael A Gargano, Sabrina Toro, et al.
Neurology
|
June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
Andrea Accogli, Gert Wiegand, Marcello Scala, et al.
Neurology
|
July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Hannah Stamberger, David Crosiers, Ganna Balagura, et al.
Frontiers in Cell and Developmental Biology
|
December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders
Ilaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Nucleic Acids Research
|
December 2, 2020
The Human Phenotype Ontology in 2021
Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthood
Angel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
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of 3
Search research articles
Search
Showing results (21-30 of 29) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 29 results.
Medrxiv : the Preprint Server for Health Sciences
|
July 28, 2023
The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease
Leigh C Carmody, Michael A Gargano, Sabrina Toro, et al.
Neurology
|
June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
Andrea Accogli, Gert Wiegand, Marcello Scala, et al.
Neurology
|
July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Hannah Stamberger, David Crosiers, Ganna Balagura, et al.
Frontiers in Cell and Developmental Biology
|
December 26, 2022
The different clinical facets of <i>SYN1</i>-related neurodevelopmental disorders
Ilaria Parenti, Elsa Leitão, Alma Kuechler, et al.
Brain : a Journal of Neurology
|
February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Nucleic Acids Research
|
December 2, 2020
The Human Phenotype Ontology in 2021
Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 27, 2025
The natural history of CDKL5 deficiency disorder into adulthood
Angel Aledo-Serrano, David Lewis-Smith, Helen Leonard, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Page
of 3