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Akira Ohtake

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American Journal of Human Genetics|December 1, 2014

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.

Genome Medicine|April 5, 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.

American Journal of Human Genetics|July 31, 2018

Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.

Brain : a Journal of Neurology|April 15, 2021

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.

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Search research articles

Showing results (141-150 of 144) with videos related to

Sort By:

Pageof 15

You have reached the last page of results.This site can display upto 144 results.

American Journal of Human Genetics|December 1, 2014

Genome Medicine|April 5, 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.

American Journal of Human Genetics|July 31, 2018

Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.

Brain : a Journal of Neurology|April 15, 2021

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathyElena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, et al.

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