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Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.
Science Translational Medicine|August 11, 2017
Metabolic and immune effects of immunotherapy with proinsulin peptide in human new-onset type 1 diabetesMohammad Alhadj Ali, Yuk-Fun Liu, Sefina Arif, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Biorxiv : the Preprint Server for Biology|January 7, 2025
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylationKimberley J Billingsley, Melissa Meredith, Kensuke Daida, et al.
Genome Medicine|July 21, 2026
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disordersChristy W LaFlamme, Chris Clarkson, Kristina Ibañez, et al.
Open Heart|February 23, 2023
Adjudicated myocarditis and multisystem illness trajectory in healthcare workers post-COVID-19Robert Sykes, Andrew J Morrow, Alex McConnachie, et al.
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