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Experimental Neurology
|
July 17, 2018
Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes
Amber R Hackett, Stephanie L Yahn, Kirill Lyapichev, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2020
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation
William J Brucker, Stacy E Croteau, John R Prensner, et al.
Archives of Disease in Childhood
|
March 26, 2010
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Tomás Honzík, Markéta Tesarová, Johannes A Mayr, et al.
Journal of Medical Genetics
|
December 6, 2018
Kabuki syndrome: international consensus diagnostic criteria
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais, Catherine-Marie Blais, Uma Ramaswami, et al.
AJNR. American Journal of Neuroradiology
|
September 29, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, et al.
Human Mutation
|
December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy
Nami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
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of 8
Search research articles
Search
Showing results (41-50 of 74) with videos related to
Sort By:
Page
of 8
Experimental Neurology
|
July 17, 2018
Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes
Amber R Hackett, Stephanie L Yahn, Kirill Lyapichev, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2020
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation
William J Brucker, Stacy E Croteau, John R Prensner, et al.
Archives of Disease in Childhood
|
March 26, 2010
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
Tomás Honzík, Markéta Tesarová, Johannes A Mayr, et al.
Journal of Medical Genetics
|
December 6, 2018
Kabuki syndrome: international consensus diagnostic criteria
Margaret P Adam, Siddharth Banka, Hans T Bjornsson, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2014
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry
Christiane Auray-Blais, Catherine-Marie Blais, Uma Ramaswami, et al.
AJNR. American Journal of Neuroradiology
|
September 29, 2025
Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction
Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, et al.
Human Mutation
|
December 31, 2025
The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy
Nami Altin, Kamel Mamchaoui, Jessica Ohana, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 30, 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, et al.
European Journal of Human Genetics : EJHG
|
April 14, 2019
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, et al.
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of 8