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Pediatric Neurology
|
December 5, 2021
A Survey of Neuromonitoring Practices in North American Pediatric Intensive Care Units
Matthew P Kirschen, Kerri LaRovere, Binod Balakrishnan, et al.
Molecular Syndromology
|
January 29, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
Christopher A Febres-Aldana, Liset Pelaez, Meredith S Wright, et al.
Frontiers in Pediatrics
|
March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson, Austin Larson, Lisa Salz, et al.
European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
JAMA
|
July 30, 2025
Influenza-Associated Acute Necrotizing Encephalopathy in US Children
, Andrew Silverman, Rachel Walsh, et al.
Human Mutation
|
January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Marcello Scala, Saskia B Wortmann, Namik Kaya, et al.
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Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
Pediatric Neurology
|
December 5, 2021
A Survey of Neuromonitoring Practices in North American Pediatric Intensive Care Units
Matthew P Kirschen, Kerri LaRovere, Binod Balakrishnan, et al.
Molecular Syndromology
|
January 29, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway
Christopher A Febres-Aldana, Liset Pelaez, Meredith S Wright, et al.
Frontiers in Pediatrics
|
March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson, Austin Larson, Lisa Salz, et al.
European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
JAMA
|
July 30, 2025
Influenza-Associated Acute Necrotizing Encephalopathy in US Children
, Andrew Silverman, Rachel Walsh, et al.
Human Mutation
|
January 6, 2022
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
Marcello Scala, Saskia B Wortmann, Namik Kaya, et al.
Page
of 2