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Journal of Inherited Metabolic Disease
|
August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
Laura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Science Advances
|
September 14, 2019
Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i>: A novel mechanism of neonatal dilated cardiomyopathy
Rebecca C Ahrens-Nicklas, Christopher T Pappas, Gerrie P Farman, et al.
Molecular Genetics and Metabolism
|
December 31, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiency
Laura A Adang, Samar Mowafy, Zackary M Herbst, et al.
Biorxiv : the Preprint Server for Biology
|
January 13, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy
Michael R Murphy, Mythily Ganapathi, Teresa M Lee, et al.
Biorxiv : the Preprint Server for Biology
|
July 10, 2023
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs
Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, et al.
American Journal of Human Genetics
|
April 2, 2026
Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform
Emily R Feierman, Madelynn N Whittaker, Aidan Quigley, et al.
American Journal of Medical Genetics. Part A
|
July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes
Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Cell Stem Cell
|
March 8, 2024
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, et al.
Nature Medicine
|
April 18, 2018
Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive
Sanghee Yun, Ryan P Reynolds, Iraklis Petrof, et al.
Page
of 17
Search research articles
Search
Showing results (141-150 of 169) with videos related to
Sort By:
Page
of 17
Journal of Inherited Metabolic Disease
|
August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
Laura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Science Advances
|
September 14, 2019
Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i>: A novel mechanism of neonatal dilated cardiomyopathy
Rebecca C Ahrens-Nicklas, Christopher T Pappas, Gerrie P Farman, et al.
Molecular Genetics and Metabolism
|
December 31, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, et al.
Journal of Inherited Metabolic Disease
|
October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiency
Laura A Adang, Samar Mowafy, Zackary M Herbst, et al.
Biorxiv : the Preprint Server for Biology
|
January 13, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy
Michael R Murphy, Mythily Ganapathi, Teresa M Lee, et al.
Biorxiv : the Preprint Server for Biology
|
July 10, 2023
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs
Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, et al.
American Journal of Human Genetics
|
April 2, 2026
Implications of the FDA's new plausible mechanism framework for the development of a personalized in vivo prime editing platform
Emily R Feierman, Madelynn N Whittaker, Aidan Quigley, et al.
American Journal of Medical Genetics. Part A
|
July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes
Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Cell Stem Cell
|
March 8, 2024
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders
Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, et al.
Nature Medicine
|
April 18, 2018
Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive
Sanghee Yun, Ryan P Reynolds, Iraklis Petrof, et al.
Page
of 17