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Medrxiv : the Preprint Server for Health Sciences
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November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
JIMD Reports
|
January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Molecular Genetics and Metabolism
|
April 11, 2021
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
Shih-Hsin Kan, Ibrahim Elsharkawi, Steven Q Le, et al.
Molecular Genetics and Metabolism
|
June 14, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis
Olivia D'Annibale, Whitney Phinney, Molly Crenshaw, et al.
Nature Communications
|
June 21, 2026
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation
Denisa Hathazi, Camilla Lyons, Daniel Lagos, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2017
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, et al.
Clinical Genetics
|
June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 4, 2020
A randomized controlled trial of an online health tool about Down syndrome
Jeanhee Chung, Karen Donelan, Eric A Macklin, et al.
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of 2
Search research articles
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Showing results (11-20 of 18) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 18 results.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
JIMD Reports
|
January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features
Rory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.
Molecular Genetics and Metabolism
|
April 11, 2021
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
Shih-Hsin Kan, Ibrahim Elsharkawi, Steven Q Le, et al.
Molecular Genetics and Metabolism
|
June 14, 2025
Differentiation of neonatal and infantile onset ECHS1 deficiency using SCEH enzyme activity and plasma acylcarnitine analysis
Olivia D'Annibale, Whitney Phinney, Molly Crenshaw, et al.
Nature Communications
|
June 21, 2026
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation
Denisa Hathazi, Camilla Lyons, Daniel Lagos, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2017
Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study
Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi, et al.
Clinical Genetics
|
June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Kévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 4, 2020
A randomized controlled trial of an online health tool about Down syndrome
Jeanhee Chung, Karen Donelan, Eric A Macklin, et al.
Page
of 2