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American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Brain, Behavior, and Immunity
|
December 17, 2024
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis
Raquel van Gool, Mariesa Cay, Boyu Ren, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
February 16, 2024
Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate
Olivia Masse, Olivia Brumfield, Esha Ahmad, et al.
Cell Reports
|
December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
Alissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy
Gerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Cell
|
April 3, 2018
Fetal Neuropathology in Zika Virus-Infected Pregnant Female Rhesus Monkeys
Amanda J Martinot, Peter Abbink, Onur Afacan, et al.
Annals of Neurology
|
January 31, 2017
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, et al.
Annals of Neurology
|
October 21, 2020
Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease
Caitlin K Rollins, Cynthia M Ortinau, Christian Stopp, et al.
Brain Communications
|
November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
Nature Biomedical Engineering
|
October 17, 2024
Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine
Julia Garcia Mancebo, Kristen Sack, Jay Hartford, et al.
Page
of 19
Search research articles
Search
Showing results (141-150 of 181) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
Brain, Behavior, and Immunity
|
December 17, 2024
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis
Raquel van Gool, Mariesa Cay, Boyu Ren, et al.
Cerebral Cortex (New York, N.Y. : 1991)
|
February 16, 2024
Divergent growth of the transient brain compartments in fetuses with nonsyndromic isolated clefts involving the primary and secondary palate
Olivia Masse, Olivia Brumfield, Esha Ahmad, et al.
Cell Reports
|
December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias
Alissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy
Gerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Cell
|
April 3, 2018
Fetal Neuropathology in Zika Virus-Infected Pregnant Female Rhesus Monkeys
Amanda J Martinot, Peter Abbink, Onur Afacan, et al.
Annals of Neurology
|
January 31, 2017
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, et al.
Annals of Neurology
|
October 21, 2020
Regional Brain Growth Trajectories in Fetuses with Congenital Heart Disease
Caitlin K Rollins, Cynthia M Ortinau, Christian Stopp, et al.
Brain Communications
|
November 3, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian E Alecu, Barbara Brechmann, et al.
Nature Biomedical Engineering
|
October 17, 2024
Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine
Julia Garcia Mancebo, Kristen Sack, Jay Hartford, et al.
Page
of 19