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Blood
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October 23, 2008
Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemia
Anne Saumet, Guillaume Vetter, Manuella Bouttier, et al.
Journal of Child Neurology
|
December 17, 2017
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome
Gabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, et al.
Molecular Genetics and Metabolism
|
March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
Saikat Santra, Jessie M Cameron, Casper Shyr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 26, 2025
The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases
Morgan Ehman, Kartik Sharma, Deirdre Weymann, et al.
Plos Biology
|
March 8, 2017
CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning
Puya Seid-Karbasi, Xin C Ye, Allen W Zhang, et al.
Journal of Lipid Research
|
March 18, 2005
Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis
Jonathan M Coutinho, Roshni R Singaraja, Martin Kang, et al.
Gene Therapy
|
February 3, 2021
Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cells
Andrea J Korecki, Jorge L Cueva-Vargas, Oriol Fornes, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
Journal of Inherited Metabolic Disease
|
January 8, 2025
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, Eva M M Hoytema van Konijnenburg, Brittany Hewitson, et al.
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of 18
Search research articles
Search
Showing results (101-110 of 172) with videos related to
Sort By:
Page
of 18
Blood
|
October 23, 2008
Transcriptional repression of microRNA genes by PML-RARA increases expression of key cancer proteins in acute promyelocytic leukemia
Anne Saumet, Guillaume Vetter, Manuella Bouttier, et al.
Journal of Child Neurology
|
December 17, 2017
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome
Gabriella A Horvath, Maja Tarailo-Graovac, Tanja Bartel, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2018
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, et al.
Molecular Genetics and Metabolism
|
March 14, 2016
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis
Saikat Santra, Jessie M Cameron, Casper Shyr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 26, 2025
The cost and cost trajectory of genome sequencing and bioinformatics analysis for Indigenous children with suspected rare diseases
Morgan Ehman, Kartik Sharma, Deirdre Weymann, et al.
Plos Biology
|
March 8, 2017
CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning
Puya Seid-Karbasi, Xin C Ye, Allen W Zhang, et al.
Journal of Lipid Research
|
March 18, 2005
Complete functional rescue of the ABCA1-/- mouse by human BAC transgenesis
Jonathan M Coutinho, Roshni R Singaraja, Martin Kang, et al.
Gene Therapy
|
February 3, 2021
Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cells
Andrea J Korecki, Jorge L Cueva-Vargas, Oriol Fornes, et al.
European Journal of Human Genetics : EJHG
|
January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement
Alexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
Journal of Inherited Metabolic Disease
|
January 8, 2025
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, Eva M M Hoytema van Konijnenburg, Brittany Hewitson, et al.
Page
of 18