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Barbara Plecko

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The Lancet. Neurology|October 25, 2020

Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.

Brain : a Journal of Neurology|November 15, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

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Search research articles

Showing results (111-120 of 113) with videos related to

Sort By:

Pageof 12

You have reached the last page of results.This site can display upto 113 results.

The Lancet. Neurology|October 25, 2020

Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.

Brain : a Journal of Neurology|November 15, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiencyKajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, et al.

The Journal of Clinical Endocrinology and Metabolism|October 2, 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.

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