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American Journal of Human Genetics
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December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
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Search research articles
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Showing results (581-590 of 582) with videos related to
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Page
of 59
You have reached the last page of results.
This site can display upto 582 results.
American Journal of Human Genetics
|
December 19, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, et al.
American Journal of Human Genetics
|
March 5, 2025
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, et al.
Page
of 59