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Showing results (91-100 of 92) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
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Showing results (91-100 of 92) with videos related to

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Pageof 10
You have reached the last page of results.This site can display upto 92 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2019
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)Elisa Rahikkala, Matti Myllykoski, Reetta Hinttala, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
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